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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   PKHD1_chr6_51610299_52092613  PKHD1_chr6_51610299_52092613 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 5314
ensemblid ENSG00000170927.15
hgncid 9016
symbol PKHD1
name PKHD1 ciliary IPT domain containing fibrocystin/polyductin
refseq_nuc NM_138694.4
refseq_prot NP_619639.3
ensembl_nuc ENST00000371117.8
ensembl_prot ENSP00000360158.3
mane_status MANE Select
chr chr6
start 51615299
end 52087613
strand -
ver v1.2
region chr6:51615299-52087613
region5000 chr6:51610299-52092613
regionname0 PKHD1_chr6_51615299_52087613
regionname5000 PKHD1_chr6_51610299_52092613

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 4074 28 14 4 9 0 1 7 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002 0/0 4074 19 5 3 7 0 4 4 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003 0/1 4074 14 3 4 2 1 3 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004 0/0 4074 12 3 3 4 0 2 3 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005 0/0 4074 4 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0006 0/0 4074 4 4 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0007 0/0 4074 4 0 0 4 0 0 4 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0008 1/0 4074 3 2 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0009 0/0 4074 3 2 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0010 0/0 4074 3 1 0 1 0 1 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0011 0/0 4074 2 2 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0012 0/0 4074 2 0 0 1 1 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0013 0/0 4074 1 0 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0014 0/0 4074 1 0 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0015 0/0 4074 1 0 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0016 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0017 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0018 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0019 0/0 4074 1 0 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0020 0/0 2670 1 0 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0021 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0022 0/0 4074 1 0 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0023 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0024 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0025 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0026 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0027 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0028 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0029 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0030 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0031 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0032 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0033 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0034 0/0 4074 1 0 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0035 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0036 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0037 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0038 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0039 0/0 4008 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0040 0/0 4074 1 0 0 1 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0041 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0042 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0043 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0044 0/0 4074 1 0 0 1 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0045 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0046 0/0 4074 1 0 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0047 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0048 0/0 4074 1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 12225 6 4 0 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0002 0/0 12225 6 2 1 3 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0003 0/0 12225 4 0 0 4 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0004 0/0 12225 4 0 0 2 0 2 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0005 0/0 12225 3 2 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0006 0/0 12225 3 2 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0007 0/0 12225 3 0 3 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0008 0/0 12225 3 0 1 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0009 0/0 12225 3 2 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0010 0/0 12225 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0011 0/0 12225 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0012 0/0 12225 2 0 0 1 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0013 0/0 12225 2 1 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0014 0/0 12225 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0015 0/1 12225 2 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0016 0/0 12225 2 0 0 0 0 2 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0017 0/0 12225 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0018 1/0 12225 2 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0019 0/0 12225 2 0 0 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0020 0/0 12225 2 1 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0021 0/0 12225 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0022 0/0 12225 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0023 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0024 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0025 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0026 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0027 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0028 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0029 0/0 12225 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0030 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0031 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0032 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0033 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0034 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0035 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0036 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0037 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0038 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0039 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0040 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0041 0/0 12225 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0042 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0043 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0044 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0045 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0046 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0047 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0048 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0049 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0050 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0051 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0052 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0053 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0054 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0055 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0056 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0057 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0058 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0059 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0060 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0061 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0062 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0063 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0064 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0065 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0066 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0067 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0068 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0069 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0070 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0071 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0072 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0073 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0074 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0075 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0076 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0077 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0078 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0079 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0080 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0081 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0082 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0083 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0084 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0085 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0086 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0087 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0088 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0089 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0090 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0091 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0092 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0093 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0094 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
c0095 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 4047 67 23 15 19 1 8 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0002 0/0 4047 14 6 2 4 1 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0003 0/0 4047 10 1 3 2 0 4 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0004 0/0 4048 10 1 2 6 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0005 0/0 4047 9 9 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0006 0/0 4047 4 4 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0007 0/0 4047 3 2 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0008 0/0 4046 3 2 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0009 0/0 4046 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0010 0/0 4048 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0011 0/0 3976 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0012 0/0 4034 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0013 0/0 4033 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0014 0/0 4047 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0015 0/0 4048 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0016 0/0 4047 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0017 0/0 4048 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0018 0/0 4047 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0019 0/0 4048 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0020 0/0 4048 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
t0021 1/0 4047 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0002 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0003 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0004 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0005 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0006 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0007 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0008 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0009 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0010 0/0 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0011 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0012 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0013 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0014 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0015 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0016 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0017 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0018 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0019 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0020 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0021 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0022 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0023 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0024 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0025 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0026 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0027 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0028 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0029 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0030 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0031 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0032 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0033 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0034 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0035 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0036 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0037 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0038 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0039 0/1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0040 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0041 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0042 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0043 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0044 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0045 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0046 0/0 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0047 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0048 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0049 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0050 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0051 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0052 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0053 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0054 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0055 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0056 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0057 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0058 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0059 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0060 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0061 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0062 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0063 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0064 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0065 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0066 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0067 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0068 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0069 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0070 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0071 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0072 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0073 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0074 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0075 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0076 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0077 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0078 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0079 1/0 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0080 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0081 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0082 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0083 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0084 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0085 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0086 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0087 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0088 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0089 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0090 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0091 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0092 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0093 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0094 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0095 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0096 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0097 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0098 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0099 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0100 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0101 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0102 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0103 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0104 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0105 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0106 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0107 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0108 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0109 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0110 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0111 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0112 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0113 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0114 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0115 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0116 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0117 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0118 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0119 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0120 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0121 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0122 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0123 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0124 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0125 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0126 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0127 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0128 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0129 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0130 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0131 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0132 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0133 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
g0134 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 12225 6 4 0 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0002 0/0 12225 6 2 1 3 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0009 0/0 12225 3 2 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0010 0/0 12225 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0019 0/0 12225 2 0 0 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0022 0/0 12225 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0032 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0034 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0061 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0082 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0083 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0093 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0094 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0004 0/0 12225 4 0 0 2 0 2 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0005 0/0 12225 3 2 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0020 0/0 12225 2 1 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0021 0/0 12225 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0031 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0033 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0065 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0077 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0079 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0080 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0091 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0092 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0007 0/0 12225 3 0 3 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0012 0/0 12225 2 0 0 1 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0013 0/0 12225 2 1 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0015 0/1 12225 2 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0016 0/0 12225 2 0 0 0 0 2 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0036 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0041 0/0 12225 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0048 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0006 0/0 12225 3 2 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0008 0/0 12225 3 0 1 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0014 0/0 12225 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0043 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0046 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0047 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0064 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0037 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0038 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0039 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0040 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0006c0011 0/0 12225 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0006c0076 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0006c0078 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0007c0003 0/0 12225 4 0 0 4 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0008c0018 1/0 12225 2 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0008c0053 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0009c0054 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0009c0056 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0009c0087 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0010c0026 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0010c0028 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0010c0030 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0011c0017 0/0 12225 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0012c0027 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0012c0029 0/0 12225 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0013c0095 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0014c0024 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0015c0025 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0016c0090 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0017c0089 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0018c0052 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0019c0049 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0020c0050 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0021c0045 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0022c0042 0/0 12225 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0023c0044 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0024c0068 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0025c0072 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0026c0073 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0027c0069 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0028c0071 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0029c0070 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0030c0055 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0031c0057 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0032c0058 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0033c0059 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0034c0085 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0035c0086 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0036c0074 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0037c0060 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0038c0062 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0039c0066 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0040c0081 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0041c0088 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0042c0035 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0043c0063 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0044c0075 0/0 12225 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0045c0084 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0046c0067 0/0 12225 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0047c0051 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0048c0023 0/0 12225 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 16271 6 4 0 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0002t0001 0/0 16271 4 0 1 3 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0002t0009 0/0 16270 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0009t0001 0/0 16271 3 2 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0010t0001 0/0 16271 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0019t0001 0/0 16271 2 0 0 2 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0022t0001 0/0 16271 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0032t0001 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0034t0001 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0061t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0082t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0083t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0093t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0001c0094t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0004t0003 0/0 16271 2 0 0 1 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0004t0004 0/0 16272 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0004t0010 0/0 16272 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0005t0002 0/0 16271 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0005t0004 0/0 16272 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0020t0003 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0020t0008 0/0 16270 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0021t0004 0/0 16272 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0031t0003 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0033t0002 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0065t0007 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0077t0002 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0079t0007 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0080t0002 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0091t0007 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0002c0092t0004 0/0 16272 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0007t0001 0/0 16271 3 0 3 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0012t0001 0/0 16271 2 0 0 1 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0013t0001 0/0 16271 2 1 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0015t0001 0/1 16271 2 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0016t0001 0/0 16271 2 0 0 0 0 2 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0036t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0041t0001 0/0 16271 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0003c0048t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0006t0002 0/0 16271 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0006t0003 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0008t0003 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0008t0004 0/0 16272 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0008t0011 0/0 16200 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0014t0004 0/0 16272 2 0 1 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0043t0015 0/0 16272 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0046t0002 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0047t0019 0/0 16272 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0004c0064t0003 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0037t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0038t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0039t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0005c0040t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0006c0011t0005 0/0 16271 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0006c0076t0005 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0006c0078t0005 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0007c0003t0001 0/0 16271 4 0 0 4 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0008c0018t0020 0/0 16272 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0008c0018t0021 1/0 16271 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0008c0053t0016 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0009c0054t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0009c0056t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0009c0087t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0010c0026t0001 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0010c0028t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0010c0030t0001 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0011c0017t0005 0/0 16271 2 2 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0012c0027t0002 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0012c0029t0002 0/0 16271 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0013c0095t0014 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0014c0024t0001 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0015c0025t0001 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0016c0090t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0017c0089t0002 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0018c0052t0006 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0019c0049t0001 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0020c0050t0001 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0021c0045t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0022c0042t0002 0/0 16271 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0023c0044t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0024c0068t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0025c0072t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0026c0073t0005 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0027c0069t0018 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0028c0071t0012 0/0 16258 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0029c0070t0008 0/0 16270 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0030c0055t0002 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0031c0057t0013 0/0 16257 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0032c0058t0001 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0033c0059t0008 0/0 16270 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0034c0085t0004 0/0 16272 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0035c0086t0001 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0036c0074t0003 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0037c0060t0005 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0038c0062t0002 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0039c0066t0003 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0040c0081t0001 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0041c0088t0006 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0042c0035t0006 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0043c0063t0005 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0044c0075t0001 0/0 16271 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0045c0084t0006 0/0 16271 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0046c0067t0003 0/0 16271 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0047c0051t0004 0/0 16272 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613
a0048c0023t0017 0/0 16272 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 copy fasta chr6 51610299 52092613

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0019 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0001t0001g0020 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0001t0001g0058 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0001t0001g0060 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0001t0001g0061 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0001t0001g0062 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0002t0001g0083 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0002t0001g0107 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0002t0001g0113 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0002t0001g0117 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0002t0009g0099 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0002t0009g0100 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0009t0001g0103 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0009t0001g0106 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0009t0001g0123 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0010t0001g0077 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0010t0001g0078 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0019t0001g0097 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0019t0001g0118 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0022t0001g0129 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0022t0001g0132 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0032t0001g0075 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0034t0001g0016 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0061t0001g0064 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0082t0001g0105 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0083t0001g0125 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0093t0001g0127 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0001c0094t0001g0131 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0004t0003g0085 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0004t0003g0126 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0004t0004g0115 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0004t0010g0101 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0005t0002g0018 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0005t0002g0021 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0005t0004g0076 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0020t0003g0084 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0020t0008g0110 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0021t0004g0128 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0021t0004g0130 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0031t0003g0014 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0033t0002g0017 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0065t0007g0068 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0077t0002g0102 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0079t0007g0089 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0080t0002g0121 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0091t0007g0133 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0002c0092t0004g0002 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0007t0001g0037 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0007t0001g0043 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0007t0001g0049 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0012t0001g0025 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0012t0001g0032 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0013t0001g0052 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0013t0001g0054 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0015t0001g0039 0/1 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0015t0001g0041 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0016t0001g0027 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0016t0001g0028 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0036t0001g0042 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0041t0001g0046 0/0 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0003c0048t0001g0047 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0006t0002g0048 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0006t0002g0055 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0006t0003g0040 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0008t0003g0003 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0008t0004g0045 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0008t0011g0026 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0014t0004g0024 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0014t0004g0033 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0043t0015g0057 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0046t0002g0050 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0047t0019g0015 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0004c0064t0003g0053 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0005c0037t0001g0038 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0005c0038t0001g0034 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0005c0039t0001g0030 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0005c0040t0001g0029 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0006c0011t0005g0063 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0006c0011t0005g0134 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0006c0076t0005g0088 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0006c0078t0005g0104 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0007c0003t0001g0006 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0007c0003t0001g0008 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0007c0003t0001g0011 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0007c0003t0001g0012 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0008c0018t0020g0074 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0008c0018t0021g0079 1/0 1 0 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0008c0053t0016g0069 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0009c0054t0001g0082 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0009c0056t0001g0073 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0009c0087t0001g0111 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0010c0026t0001g0013 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0010c0028t0001g0009 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0010c0030t0001g0007 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0011c0017t0005g0071 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0011c0017t0005g0080 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0012c0027t0002g0005 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0012c0029t0002g0010 0/0 1 0 0 0 1 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0013c0095t0014g0122 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0014c0024t0001g0004 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0015c0025t0001g0031 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0016c0090t0001g0120 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0017c0089t0002g0116 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0018c0052t0006g0086 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0019c0049t0001g0035 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0020c0050t0001g0023 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0021c0045t0001g0036 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0022c0042t0002g0051 0/0 1 0 0 0 0 1 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0023c0044t0001g0044 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0024c0068t0001g0091 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0025c0072t0001g0095 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0026c0073t0005g0094 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0027c0069t0018g0092 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0028c0071t0012g0093 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0029c0070t0008g0090 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0030c0055t0002g0072 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0031c0057t0013g0067 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0032c0058t0001g0070 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0033c0059t0008g0001 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0034c0085t0004g0096 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0035c0086t0001g0109 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0036c0074t0003g0108 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0037c0060t0005g0022 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0038c0062t0002g0065 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0039c0066t0003g0098 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0040c0081t0001g0124 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0041c0088t0006g0114 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0042c0035t0006g0059 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0043c0063t0005g0066 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0044c0075t0001g0119 0/0 1 0 0 1 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0045c0084t0006g0087 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0046c0067t0003g0112 0/0 1 0 1 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0047c0051t0004g0056 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
a0048c0023t0017g0081 0/0 1 1 0 0 0 0 PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00423 hp1 a0034 c0085 t0004 g0096 EAS CHS PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG00423 hp2 a0003 c0012 t0001 g0032 EAS CHS PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG00738 hp1 a0002 c0021 t0004 g0128 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG00738 hp2 a0001 c0002 t0001 g0117 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG00741 hp1 a0028 c0071 t0012 g0093 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG00741 hp2 a0003 c0007 t0001 g0037 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01071 hp1 a0001 c0022 t0001 g0129 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01071 hp2 a0004 c0043 t0015 g0057 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01074 hp1 a0046 c0067 t0003 g0112 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01074 hp2 a0005 c0040 t0001 g0029 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01081 hp1 a0004 c0014 t0004 g0024 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01081 hp2 a0016 c0090 t0001 g0120 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01106 hp1 a0005 c0037 t0001 g0038 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01106 hp2 a0036 c0074 t0003 g0108 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01175 hp1 a0029 c0070 t0008 g0090 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01175 hp2 a0003 c0007 t0001 g0043 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01243 hp1 a0009 c0087 t0001 g0111 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01243 hp2 a0017 c0089 t0002 g0116 AMR PUR PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01255 hp1 a0002 c0079 t0007 g0089 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01255 hp2 a0002 c0077 t0002 g0102 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01261 hp1 a0001 c0009 t0001 g0106 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01261 hp2 a0003 c0007 t0001 g0049 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01433 hp1 a0001 c0093 t0001 g0127 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01433 hp2 a0021 c0045 t0001 g0036 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01496 hp1 a0003 c0036 t0001 g0042 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01496 hp2 a0004 c0008 t0003 g0003 AMR CLM PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01952 hp1 a0023 c0044 t0001 g0044 AMR PEL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG01952 hp2 a0035 c0086 t0001 g0109 AMR PEL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02015 hp1 a0004 c0014 t0004 g0033 EAS KHV PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02015 hp2 a0003 c0013 t0001 g0052 EAS KHV PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02040 hp1 a0001 c0034 t0001 g0016 EAS KHV PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02040 hp2 a0001 c0002 t0001 g0113 EAS KHV PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02055 hp1 a0004 c0006 t0002 g0048 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02055 hp2 a0002 c0005 t0002 g0018 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02155 hp1 a0002 c0021 t0004 g0130 EAS CDX PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02155 hp2 a0002 c0004 t0003 g0085 EAS CDX PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02257 hp1 a0004 c0047 t0019 g0015 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02257 hp2 a0001 c0001 t0001 g0058 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02280 hp1 a0041 c0088 t0006 g0114 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02280 hp2 a0011 c0017 t0005 g0071 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02451 hp1 a0001 c0001 t0001 g0061 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02451 hp2 a0006 c0078 t0005 g0104 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02622 hp1 a0048 c0023 t0017 g0081 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02622 hp2 a0001 c0009 t0001 g0103 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02683 hp1 a0002 c0004 t0010 g0101 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02683 hp2 a0020 c0050 t0001 g0023 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02698 hp1 a0019 c0049 t0001 g0035 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02698 hp2 a0003 c0016 t0001 g0027 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02717 hp1 a0026 c0073 t0005 g0094 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02717 hp2 a0001 c0009 t0001 g0123 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02809 hp1 a0001 c0094 t0001 g0131 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02809 hp2 a0006 c0011 t0005 g0063 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02818 hp1 a0030 c0055 t0002 g0072 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02818 hp2 a0005 c0039 t0001 g0030 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02896 hp1 a0031 c0057 t0013 g0067 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02896 hp2 a0001 c0002 t0009 g0099 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02897 hp1 a0001 c0002 t0009 g0100 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02897 hp2 a0027 c0069 t0018 g0092 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02922 hp1 a0037 c0060 t0005 g0022 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02922 hp2 a0001 c0010 t0001 g0078 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02965 hp1 a0001 c0001 t0001 g0060 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02965 hp2 a0008 c0053 t0016 g0069 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02970 hp1 a0042 c0035 t0006 g0059 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02970 hp2 a0001 c0082 t0001 g0105 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02976 hp1 a0001 c0010 t0001 g0077 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02976 hp2 a0009 c0054 t0001 g0082 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03041 hp1 a0045 c0084 t0006 g0087 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03041 hp2 a0038 c0062 t0002 g0065 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03098 hp1 a0008 c0018 t0020 g0074 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03098 hp2 a0005 c0038 t0001 g0034 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03139 hp1 a0018 c0052 t0006 g0086 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03139 hp2 a0047 c0051 t0004 g0056 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03225 hp1 a0001 c0001 t0001 g0062 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03225 hp2 a0024 c0068 t0001 g0091 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03239 hp1 a0002 c0004 t0003 g0126 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03239 hp2 a0022 c0042 t0002 g0051 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03453 hp1 a0001 c0061 t0001 g0064 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03453 hp2 a0002 c0065 t0007 g0068 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03486 hp1 a0009 c0056 t0001 g0073 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03486 hp2 a0002 c0005 t0002 g0021 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03516 hp1 a0032 c0058 t0001 g0070 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03516 hp2 a0004 c0006 t0002 g0055 AFR ESN PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03540 hp1 a0011 c0017 t0005 g0080 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03540 hp2 a0002 c0091 t0007 g0133 AFR GWD PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03669 hp1 a0014 c0024 t0001 g0004 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03669 hp2 a0004 c0064 t0003 g0053 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03704 hp1 a0013 c0095 t0014 g0122 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03704 hp2 a0003 c0016 t0001 g0028 SAS PJL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG04184 hp1 a0001 c0032 t0001 g0075 SAS BEB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG04184 hp2 a0010 c0030 t0001 g0007 SAS BEB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG04204 hp1 a0003 c0012 t0001 g0025 SAS STU PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG04204 hp2 a0002 c0031 t0003 g0014 SAS STU PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG04228 hp1 a0004 c0006 t0003 g0040 SAS STU PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG04228 hp2 a0002 c0005 t0004 g0076 SAS STU PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18747 hp1 a0015 c0025 t0001 g0031 EAS CHB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18747 hp2 a0002 c0033 t0002 g0017 EAS CHB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18964 hp1 a0001 c0019 t0001 g0118 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18964 hp2 a0004 c0008 t0011 g0026 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18971 hp1 a0040 c0081 t0001 g0124 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18971 hp2 a0001 c0022 t0001 g0132 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18975 hp1 a0001 c0002 t0001 g0083 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18975 hp2 a0007 c0003 t0001 g0012 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18988 hp1 a0001 c0001 t0001 g0019 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18988 hp2 a0012 c0027 t0002 g0005 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18989 hp1 a0007 c0003 t0001 g0011 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA18989 hp2 a0002 c0020 t0003 g0084 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19001 hp1 a0002 c0080 t0002 g0121 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19001 hp2 a0004 c0008 t0004 g0045 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19003 hp1 a0007 c0003 t0001 g0006 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19003 hp2 a0002 c0092 t0004 g0002 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19005 hp1 a0004 c0046 t0002 g0050 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19005 hp2 a0001 c0019 t0001 g0097 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19007 hp1 a0010 c0026 t0001 g0013 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19007 hp2 a0044 c0075 t0001 g0119 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19054 hp1 a0001 c0002 t0001 g0107 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19054 hp2 a0001 c0001 t0001 g0020 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19090 hp1 a0007 c0003 t0001 g0008 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19090 hp2 a0002 c0004 t0004 g0115 EAS JPT PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19240 hp1 a0006 c0011 t0005 g0134 AFR YRI PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA19240 hp2 a0003 c0013 t0001 g0054 AFR YRI PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA20129 hp1 a0001 c0083 t0001 g0125 AFR ASW PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA20129 hp2 a0010 c0028 t0001 g0009 AFR ASW PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA20752 hp1 a0012 c0029 t0002 g0010 EUR TSI PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA20752 hp2 a0003 c0041 t0001 g0046 EUR TSI PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02486 hp1 a0006 c0076 t0005 g0088 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG02486 hp2 a0003 c0048 t0001 g0047 AFR ACB PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03471 hp1 a0002 c0020 t0008 g0110 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG03471 hp2 a0033 c0059 t0008 g0001 AFR MSL PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG06807 hp1 a0039 c0066 t0003 g0098 AFR USA PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
HG06807 hp2 a0025 c0072 t0001 g0095 AFR USA PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA20300 hp1 a0043 c0063 t0005 g0066 AFR USA PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
NA20300 hp2 a0003 c0015 t0001 g0041 AFR USA PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
homoSapiens_chm13v2 hp1 a0003 c0015 t0001 g0039 REF REF PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613
homoSapiens_grch38 hp1 a0008 c0018 t0021 g0079 REF REF PKHD1_chr6_51610299_52092613 PKHD1 chr6 51610299 52092613

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr6:51619163 T
T
 C
C
 20 a0001
a0003
a0005
others(17): Show 
a0001
a0003
a0005
a0007
a0009
a0010
a0013
a0014
a0015
a0016
a0019
a0020
a0021
a0023
a0024
a0025
a0032
a0035
a0040
a0044
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.12143A>G
c.12143A>G
 p.Gln4048Arg
p.Gln4048Arg
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 12407/16271 12143/12225 4048/4074 chr6 51619163
chr6:51619279 G
G
 C
C
 1 a0039
a0039
 1 HG06807.hp1
HG06807.hp1
 stop_gained HIGH c.12027C>G
c.12027C>G
 p.Tyr4009*
p.Tyr4009*
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 12291/16271 12027/12225 4009/4074 chr6 51619279
chr6:51627044 C
C
 T
T
 1 a0041
a0041
 1 HG02280.hp1
HG02280.hp1
 missense_variant MODERATE c.11738G>A
c.11738G>A
 p.Arg3913His
p.Arg3913His
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/67 12002/16271 11738/12225 3913/4074 chr6 51627044
chr6:51627068 A
A
 T
T
 8 a0018
a0027
a0029
others(5): Show 
a0018
a0027
a0029
a0033
a0041
a0042
a0045
a0048
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 missense_variant MODERATE c.11714T>A
c.11714T>A
 p.Ile3905Asn
p.Ile3905Asn
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/67 11978/16271 11714/12225 3905/4074 chr6 51627068
chr6:51627086 T
T
 C
C
 19 a0001
a0003
a0005
others(16): Show 
a0001
a0003
a0005
a0007
a0009
a0010
a0013
a0014
a0015
a0016
a0019
a0020
a0021
a0023
a0024
a0025
a0032
a0035
a0044
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.11696A>G
c.11696A>G
 p.Gln3899Arg
p.Gln3899Arg
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/67 11960/16271 11696/12225 3899/4074 chr6 51627086
chr6:51632705 C
C
 A
A
 1 a0016
a0016
 1 HG01081.hp2
HG01081.hp2
 missense_variant MODERATE c.11525G>T
c.11525G>T
 p.Arg3842Leu
p.Arg3842Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/67 11789/16271 11525/12225 3842/4074 chr6 51632705
chr6:51632721 C
C
 T
T
 7 a0006
a0011
a0026
others(4): Show 
a0006
a0011
a0026
a0028
a0031
a0037
a0043
 11 HG00741.hp1
HG02280.hp2
HG02451.hp2
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG03540.hp1
NA19240.hp1
NA20300.hp1
 missense_variant&splice_region_variant MODERATE c.11509G>A
c.11509G>A
 p.Val3837Ile
p.Val3837Ile
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/67 11773/16271 11509/12225 3837/4074 chr6 51632721
chr6:51649171 C
C
 T
T
 1 a0022
a0022
 1 HG03239.hp2
HG03239.hp2
 missense_variant MODERATE c.11224G>A
c.11224G>A
 p.Ala3742Thr
p.Ala3742Thr
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 62/67 11488/16271 11224/12225 3742/4074 chr6 51649171
chr6:51659541 C
C
 G
G
 3 a0029
a0033
a0042
a0029
a0033
a0042
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 missense_variant MODERATE c.10585G>C
c.10585G>C
 p.Glu3529Gln
p.Glu3529Gln
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/67 10849/16271 10585/12225 3529/4074 chr6 51659541
chr6:51659611 G
G
 T
T
 1 a0021
a0021
 1 HG01433.hp2
HG01433.hp2
 missense_variant MODERATE c.10515C>A
c.10515C>A
 p.Ser3505Arg
p.Ser3505Arg
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/67 10779/16271 10515/12225 3505/4074 chr6 51659611
chr6:51747987 G
G
 C
C
 1 a0007
a0007
 4 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(1): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19090.hp1
 missense_variant MODERATE c.9629C>G
c.9629C>G
 p.Ser3210Cys
p.Ser3210Cys
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/67 9893/16271 9629/12225 3210/4074 chr6 51747987
chr6:51748039 C
C
 T
T
 4 a0011
a0037
a0038
others(1): Show 
a0011
a0037
a0038
a0048
 5 HG02280.hp2
HG02622.hp1
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02622.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp1
 missense_variant MODERATE c.9577G>A
c.9577G>A
 p.Val3193Ile
p.Val3193Ile
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/67 9841/16271 9577/12225 3193/4074 chr6 51748039
chr6:51748131 T
T
 C
C
 1 a0030
a0030
 1 HG02818.hp1
HG02818.hp1
 missense_variant MODERATE c.9485A>G
c.9485A>G
 p.Glu3162Gly
p.Glu3162Gly
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/67 9749/16271 9485/12225 3162/4074 chr6 51748131
chr6:51772738 G
G
 T
T
 1 a0021
a0021
 1 HG01433.hp2
HG01433.hp2
 missense_variant MODERATE c.8606C>A
c.8606C>A
 p.Thr2869Lys
p.Thr2869Lys
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/67 8870/16271 8606/12225 2869/4074 chr6 51772738
chr6:51847871 G
G
 A
A
 1 a0020
a0020
 1 HG02683.hp2
HG02683.hp2
 stop_gained HIGH c.8011C>T
c.8011C>T
 p.Arg2671*
p.Arg2671*
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/67 8275/16271 8011/12225 2671/4074 chr6 51847871
chr6:51847940 C
C
 T
T
 1 a0023
a0023
 1 HG01952.hp1
HG01952.hp1
 missense_variant MODERATE c.7942G>A
c.7942G>A
 p.Gly2648Ser
p.Gly2648Ser
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/67 8206/16271 7942/12225 2648/4074 chr6 51847940
chr6:51847961 T
T
 C
C
 1 a0047
a0047
 1 HG03139.hp2
HG03139.hp2
 missense_variant MODERATE c.7921A>G
c.7921A>G
 p.Thr2641Ala
p.Thr2641Ala
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/67 8185/16271 7921/12225 2641/4074 chr6 51847961
chr6:51883145 T
T
 A
A
 6 a0028
a0029
a0031
others(3): Show 
a0028
a0029
a0031
a0032
a0033
a0043
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 missense_variant MODERATE c.7298A>T
c.7298A>T
 p.Asp2433Val
p.Asp2433Val
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/67 7562/16271 7298/12225 2433/4074 chr6 51883145
chr6:51887151 A
A
 T
T
 2 a0007
a0044
a0007
a0044
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 missense_variant MODERATE c.7091T>A
c.7091T>A
 p.Ile2364Asn
p.Ile2364Asn
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/67 7355/16271 7091/12225 2364/4074 chr6 51887151
chr6:51903997 C
C
 T
T
 1 a0036
a0036
 1 HG01106.hp2
HG01106.hp2
 missense_variant MODERATE c.6854G>A
c.6854G>A
 p.Gly2285Glu
p.Gly2285Glu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/67 7118/16271 6854/12225 2285/4074 chr6 51903997
chr6:51906241 T
T
 C
C
 1 a0045
a0045
 1 HG03041.hp1
HG03041.hp1
 missense_variant MODERATE c.6782A>G
c.6782A>G
 p.Asn2261Ser
p.Asn2261Ser
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/67 7046/16271 6782/12225 2261/4074 chr6 51906241
chr6:51912453 G
G
 A
A
 2 a0034
a0035
a0034
a0035
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 missense_variant MODERATE c.6245C>T
c.6245C>T
 p.Thr2082Ile
p.Thr2082Ile
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 38/67 6509/16271 6245/12225 2082/4074 chr6 51912453
chr6:51912487 T
T
 G
G
 1 a0025
a0025
 1 HG06807.hp2
HG06807.hp2
 missense_variant MODERATE c.6211A>C
c.6211A>C
 p.Asn2071His
p.Asn2071His
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 38/67 6475/16271 6211/12225 2071/4074 chr6 51912487
chr6:52010452 A
A
 C
C
 40 a0001
a0002
a0003
others(37): Show 
a0001
a0002
a0003
a0004
a0005
a0006
a0007
a0010
a0012
a0013
a0014
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0023
a0024
a0025
a0026
a0027
a0028
a0029
a0034
a0035
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
 121 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(118): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.5608T>G
c.5608T>G
 p.Leu1870Val
p.Leu1870Val
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/67 5872/16271 5608/12225 1870/4074 chr6 52010452
chr6:52017599 C
C
 T
T
 1 a0024
a0024
 1 HG03225.hp2
HG03225.hp2
 missense_variant MODERATE c.5411G>A
c.5411G>A
 p.Arg1804His
p.Arg1804His
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/67 5675/16271 5411/12225 1804/4074 chr6 52017599
chr6:52025467 T
T
 C
C
 1 a0018
a0018
 1 HG03139.hp1
HG03139.hp1
 missense_variant MODERATE c.4343A>G
c.4343A>G
 p.Glu1448Gly
p.Glu1448Gly
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 4607/16271 4343/12225 1448/4074 chr6 52025467
chr6:52026025 G
G
 A
A
 8 a0003
a0004
a0015
others(5): Show 
a0003
a0004
a0015
a0019
a0020
a0021
a0022
a0023
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.3785C>T
c.3785C>T
 p.Ala1262Val
p.Ala1262Val
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 4049/16271 3785/12225 1262/4074 chr6 52026025
chr6:52026124 C
C
 G
G
 6 a0024
a0025
a0026
others(3): Show 
a0024
a0025
a0026
a0027
a0028
a0029
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 missense_variant MODERATE c.3686G>C
c.3686G>C
 p.Trp1229Ser
p.Trp1229Ser
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 3950/16271 3686/12225 1229/4074 chr6 52026124
chr6:52028333 A
A
 G
G
 1 a0046
a0046
 1 HG01074.hp1
HG01074.hp1
 missense_variant MODERATE c.3383T>C
c.3383T>C
 p.Ile1128Thr
p.Ile1128Thr
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 30/67 3647/16271 3383/12225 1128/4074 chr6 52028333
chr6:52028344 C
C
 A
A
 1 a0019
a0019
 1 HG02698.hp1
HG02698.hp1
 missense_variant MODERATE c.3372G>T
c.3372G>T
 p.Glu1124Asp
p.Glu1124Asp
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 30/67 3636/16271 3372/12225 1124/4074 chr6 52028344
chr6:52046107 T
T
 C
C
 4 a0007
a0010
a0012
others(1): Show 
a0007
a0010
a0012
a0014
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 missense_variant MODERATE c.2489A>G
c.2489A>G
 p.Asn830Ser
p.Asn830Ser
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 24/67 2753/16271 2489/12225 830/4074 chr6 52046107
chr6:52050158 G
G
 A
A
 9 a0003
a0004
a0005
others(6): Show 
a0003
a0004
a0005
a0015
a0019
a0020
a0021
a0022
a0023
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 missense_variant&splice_region_variant MODERATE c.2278C>T
c.2278C>T
 p.Arg760Cys
p.Arg760Cys
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/67 2542/16271 2278/12225 760/4074 chr6 52050158
chr6:52053135 G
G
 A
A
 1 a0047
a0047
 1 HG03139.hp2
HG03139.hp2
 missense_variant MODERATE c.2081C>T
c.2081C>T
 p.Ala694Val
p.Ala694Val
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/67 2345/16271 2081/12225 694/4074 chr6 52053135
chr6:52053189 G
G
 C
C
 1 a0018
a0018
 1 HG03139.hp1
HG03139.hp1
 missense_variant MODERATE c.2027C>G
c.2027C>G
 p.Pro676Arg
p.Pro676Arg
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/67 2291/16271 2027/12225 676/4074 chr6 52053189
chr6:52054077 G
G
 A
A
 1 a0018
a0018
 1 HG03139.hp1
HG03139.hp1
 missense_variant MODERATE c.1925C>T
c.1925C>T
 p.Thr642Ile
p.Thr642Ile
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 20/67 2189/16271 1925/12225 642/4074 chr6 52054077
chr6:52055594 T
T
 C
C
 1 a0017
a0017
 1 HG01243.hp2
HG01243.hp2
 missense_variant MODERATE c.1829A>G
c.1829A>G
 p.Tyr610Cys
p.Tyr610Cys
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/67 2093/16271 1829/12225 610/4074 chr6 52055594
chr6:52055687 G
G
 A
A
 1 a0016
a0016
 1 HG01081.hp2
HG01081.hp2
 missense_variant MODERATE c.1736C>T
c.1736C>T
 p.Thr579Met
p.Thr579Met
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/67 2000/16271 1736/12225 579/4074 chr6 52055687
chr6:52058348 C
C
 T
T
 1 a0015
a0015
 1 NA18747.hp1
NA18747.hp1
 missense_variant MODERATE c.1487G>A
c.1487G>A
 p.Arg496Gln
p.Arg496Gln
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/67 1751/16271 1487/12225 496/4074 chr6 52058348
chr6:52062549 C
C
 T
T
 1 a0014
a0014
 1 HG03669.hp1
HG03669.hp1
 missense_variant MODERATE c.1088G>A
c.1088G>A
 p.Gly363Glu
p.Gly363Glu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/67 1352/16271 1088/12225 363/4074 chr6 52062549
chr6:52071021 C
C
 T
T
 1 a0048
a0048
 1 HG02622.hp1
HG02622.hp1
 missense_variant MODERATE c.652G>A
c.652G>A
 p.Glu218Lys
p.Glu218Lys
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/67 916/16271 652/12225 218/4074 chr6 52071021
chr6:52083201 G
G
 A
A
 1 a0013
a0013
 1 HG03704.hp1
HG03704.hp1
 missense_variant MODERATE c.107C>T
c.107C>T
 p.Thr36Met
p.Thr36Met
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 3/67 371/16271 107/12225 36/4074 chr6 52083201

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr6:51619303 C
C
 T
T
 1 a0030c0055
a0030c0055
 1 HG02818.hp1
HG02818.hp1
 synonymous_variant LOW c.12003G>A
c.12003G>A
 p.Glu4001Glu
p.Glu4001Glu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 12267/16271 12003/12225 4001/4074 chr6 51619303
chr6:51648089 A
A
 G
G
 1 a0047c0051
a0047c0051
 1 HG03139.hp2
HG03139.hp2
 synonymous_variant LOW c.11340T>C
c.11340T>C
 p.Pro3780Pro
p.Pro3780Pro
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/67 11604/16271 11340/12225 3780/4074 chr6 51648089
chr6:51658996 G
G
 A
A
 1 a0025c0072
a0025c0072
 1 HG06807.hp2
HG06807.hp2
 synonymous_variant LOW c.11130C>T
c.11130C>T
 p.Ile3710Ile
p.Ile3710Ile
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/67 11394/16271 11130/12225 3710/4074 chr6 51658996
chr6:51659119 C
C
 T
T
 1 a0003c0041
a0003c0041
 1 NA20752.hp2
NA20752.hp2
 synonymous_variant LOW c.11007G>A
c.11007G>A
 p.Ser3669Ser
p.Ser3669Ser
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/67 11271/16271 11007/12225 3669/4074 chr6 51659119
chr6:51659605 G
G
 A
A
 9 a0002c0033
a0002c0077
a0002c0080
others(6): Show 
a0002c0033
a0002c0077
a0002c0080
a0004c0043
a0004c0046
a0012c0027
a0017c0089
a0022c0042
a0040c0081
 9 HG01071.hp2
HG01243.hp2
HG01255.hp2
others(6): Show 
HG01071.hp2
HG01243.hp2
HG01255.hp2
HG03239.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19005.hp1
 synonymous_variant LOW c.10521C>T
c.10521C>T
 p.His3507His
p.His3507His
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/67 10785/16271 10521/12225 3507/4074 chr6 51659605
chr6:51748124 G
G
 A
A
 1 a0010c0028
a0010c0028
 1 NA20129.hp2
NA20129.hp2
 synonymous_variant LOW c.9492C>T
c.9492C>T
 p.Ser3164Ser
p.Ser3164Ser
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/67 9756/16271 9492/12225 3164/4074 chr6 51748124
chr6:51748253 A
A
 G
G
 1 a0005c0037
a0005c0037
 1 HG01106.hp1
HG01106.hp1
 synonymous_variant LOW c.9363T>C
c.9363T>C
 p.Asn3121Asn
p.Asn3121Asn
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/67 9627/16271 9363/12225 3121/4074 chr6 51748253
chr6:51748379 C
C
 T
T
 22 a0001c0002
a0001c0019
a0001c0032
others(19): Show 
a0001c0002
a0001c0019
a0001c0032
a0002c0004
a0002c0033
a0002c0080
a0002c0092
a0003c0007
a0003c0012
a0003c0036
a0004c0014
a0004c0046
a0004c0064
a0010c0026
a0010c0028
a0012c0027
a0013c0095
a0016c0090
a0021c0045
a0023c0044
a0024c0068
a0040c0081
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 synonymous_variant LOW c.9237G>A
c.9237G>A
 p.Ala3079Ala
p.Ala3079Ala
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/67 9501/16271 9237/12225 3079/4074 chr6 51748379
chr6:51754908 G
G
 C
C
 3 a0006c0078
a0009c0087
a0038c0062
a0006c0078
a0009c0087
a0038c0062
 3 HG01243.hp1
HG02451.hp2
HG03041.hp2
HG01243.hp1
HG02451.hp2
HG03041.hp2
 synonymous_variant LOW c.8673C>G
c.8673C>G
 p.Arg2891Arg
p.Arg2891Arg
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/67 8937/16271 8673/12225 2891/4074 chr6 51754908
chr6:51856040 T
T
 C
C
 48 a0001c0001
a0001c0002
a0001c0032
others(45): Show 
a0001c0001
a0001c0002
a0001c0032
a0001c0034
a0001c0061
a0001c0082
a0001c0083
a0001c0093
a0002c0004
a0002c0005
a0002c0020
a0002c0033
a0002c0065
a0002c0080
a0002c0092
a0003c0007
a0003c0015
a0003c0036
a0003c0048
a0004c0008
a0004c0014
a0004c0046
a0004c0047
a0004c0064
a0005c0039
a0005c0040
a0006c0011
a0009c0087
a0010c0026
a0010c0028
a0010c0030
a0012c0027
a0012c0029
a0013c0095
a0014c0024
a0015c0025
a0017c0089
a0021c0045
a0023c0044
a0024c0068
a0032c0058
a0034c0085
a0035c0086
a0036c0074
a0038c0062
a0040c0081
a0041c0088
a0048c0023
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.7764A>G
c.7764A>G
 p.Leu2588Leu
p.Leu2588Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/67 8028/16271 7764/12225 2588/4074 chr6 51856040
chr6:51868009 C
C
 T
T
 28 a0001c0009
a0001c0010
a0001c0019
others(25): Show 
a0001c0009
a0001c0010
a0001c0019
a0001c0022
a0002c0021
a0002c0031
a0002c0077
a0002c0091
a0003c0012
a0003c0013
a0003c0016
a0003c0041
a0004c0006
a0004c0043
a0005c0037
a0006c0076
a0006c0078
a0007c0003
a0008c0053
a0009c0054
a0016c0090
a0019c0049
a0020c0050
a0022c0042
a0030c0055
a0044c0075
a0046c0067
a0047c0051
 42 HG00423.hp2
HG00738.hp1
HG01071.hp1
others(39): Show 
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 synonymous_variant LOW c.7587G>A
c.7587G>A
 p.Gly2529Gly
p.Gly2529Gly
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/67 7851/16271 7587/12225 2529/4074 chr6 51868009
chr6:51906249 T
T
 G
G
 1 a0042c0035
a0042c0035
 1 HG02970.hp1
HG02970.hp1
 synonymous_variant LOW c.6774A>C
c.6774A>C
 p.Val2258Val
p.Val2258Val
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/67 7038/16271 6774/12225 2258/4074 chr6 51906249
chr6:51912514 G
G
 A
A
 1 a0025c0072
a0025c0072
 1 HG06807.hp2
HG06807.hp2
 synonymous_variant LOW c.6184C>T
c.6184C>T
 p.Leu2062Leu
p.Leu2062Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 38/67 6448/16271 6184/12225 2062/4074 chr6 51912514
chr6:51959882 G
G
 A
A
 14 a0001c0001
a0001c0083
a0001c0093
others(11): Show 
a0001c0001
a0001c0083
a0001c0093
a0003c0048
a0004c0047
a0005c0039
a0005c0040
a0009c0087
a0018c0052
a0026c0073
a0034c0085
a0035c0086
a0042c0035
a0045c0084
 19 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(16): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02717.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 synonymous_variant LOW c.5896C>T
c.5896C>T
 p.Leu1966Leu
p.Leu1966Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/67 6160/16271 5896/12225 1966/4074 chr6 51959882
chr6:52022823 G
G
 A
A
 1 a0033c0059
a0033c0059
 1 HG03471.hp2
HG03471.hp2
 synonymous_variant LOW c.5358C>T
c.5358C>T
 p.Ser1786Ser
p.Ser1786Ser
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/67 5622/16271 5358/12225 1786/4074 chr6 52022823
chr6:52024575 G
G
 A
A
 1 a0005c0040
a0005c0040
 1 HG01074.hp2
HG01074.hp2
 splice_region_variant&synonymous_variant LOW c.5235C>T
c.5235C>T
 p.Phe1745Phe
p.Phe1745Phe
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 5499/16271 5235/12225 1745/4074 chr6 52024575
chr6:52024611 G
G
 T
T
 1 a0002c0091
a0002c0091
 1 HG03540.hp2
HG03540.hp2
 synonymous_variant LOW c.5199C>A
c.5199C>A
 p.Thr1733Thr
p.Thr1733Thr
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 5463/16271 5199/12225 1733/4074 chr6 52024611
chr6:52024698 G
G
 A
A
 1 a0003c0016
a0003c0016
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 synonymous_variant LOW c.5112C>T
c.5112C>T
 p.Cys1704Cys
p.Cys1704Cys
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 5376/16271 5112/12225 1704/4074 chr6 52024698
chr6:52025934 G
G
 A
A
 6 a0024c0068
a0025c0072
a0026c0073
others(3): Show 
a0024c0068
a0025c0072
a0026c0073
a0027c0069
a0028c0071
a0029c0070
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 synonymous_variant LOW c.3876C>T
c.3876C>T
 p.Thr1292Thr
p.Thr1292Thr
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 4140/16271 3876/12225 1292/4074 chr6 52025934
chr6:52026054 C
C
 G
G
 1 a0003c0036
a0003c0036
 1 HG01496.hp1
HG01496.hp1
 synonymous_variant LOW c.3756G>C
c.3756G>C
 p.Leu1252Leu
p.Leu1252Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/67 4020/16271 3756/12225 1252/4074 chr6 52026054
chr6:52033091 T
T
 C
C
 1 a0001c0094
a0001c0094
 1 HG02809.hp1
HG02809.hp1
 synonymous_variant LOW c.3303A>G
c.3303A>G
 p.Thr1101Thr
p.Thr1101Thr
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/67 3567/16271 3303/12225 1101/4074 chr6 52033091
chr6:52042896 T
T
 C
C
 1 a0020c0050
a0020c0050
 1 HG02683.hp2
HG02683.hp2
 synonymous_variant LOW c.3060A>G
c.3060A>G
 p.Arg1020Arg
p.Arg1020Arg
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/67 3324/16271 3060/12225 1020/4074 chr6 52042896
chr6:52046133 G
G
 C
C
 1 a0041c0088
a0041c0088
 1 HG02280.hp1
HG02280.hp1
 synonymous_variant LOW c.2463C>G
c.2463C>G
 p.Ala821Ala
p.Ala821Ala
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 24/67 2727/16271 2463/12225 821/4074 chr6 52046133
chr6:52053170 T
T
 G
G
 5 a0001c0022
a0001c0093
a0001c0094
others(2): Show 
a0001c0022
a0001c0093
a0001c0094
a0002c0021
a0002c0092
 7 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(4): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02155.hp1
HG02809.hp1
NA18971.hp2
NA19003.hp2
 synonymous_variant LOW c.2046A>C
c.2046A>C
 p.Pro682Pro
p.Pro682Pro
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/67 2310/16271 2046/12225 682/4074 chr6 52053170
chr6:52056905 A
A
 G
G
 7 a0007c0003
a0010c0026
a0010c0028
others(4): Show 
a0007c0003
a0010c0026
a0010c0028
a0010c0030
a0012c0027
a0012c0029
a0014c0024
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 synonymous_variant LOW c.1587T>C
c.1587T>C
 p.Asn529Asn
p.Asn529Asn
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 17/67 1851/16271 1587/12225 529/4074 chr6 52056905
chr6:52059976 A
A
 G
G
 85 a0001c0001
a0001c0002
a0001c0009
others(82): Show 
a0001c0001
a0001c0002
a0001c0009
a0001c0010
a0001c0019
a0001c0022
a0001c0032
a0001c0034
a0001c0061
a0001c0082
a0001c0083
a0001c0093
a0001c0094
a0002c0004
a0002c0005
a0002c0020
a0002c0021
a0002c0031
a0002c0033
a0002c0065
a0002c0077
a0002c0079
a0002c0080
a0002c0091
a0002c0092
a0003c0007
a0003c0012
a0003c0013
a0003c0015
a0003c0016
a0003c0036
a0003c0041
a0003c0048
a0004c0006
a0004c0008
a0004c0014
a0004c0043
a0004c0046
a0004c0047
a0004c0064
a0005c0037
a0005c0038
a0005c0039
a0005c0040
a0006c0011
a0006c0076
a0006c0078
a0007c0003
a0009c0087
a0010c0026
a0010c0028
a0010c0030
a0012c0027
a0012c0029
a0013c0095
a0014c0024
a0015c0025
a0016c0090
a0017c0089
a0018c0052
a0019c0049
a0020c0050
a0021c0045
a0022c0042
a0023c0044
a0024c0068
a0025c0072
a0026c0073
a0027c0069
a0028c0071
a0029c0070
a0034c0085
a0035c0086
a0036c0074
a0037c0060
a0038c0062
a0039c0066
a0040c0081
a0041c0088
a0042c0035
a0043c0063
a0044c0075
a0045c0084
a0046c0067
a0047c0051
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1185T>C
c.1185T>C
 p.Asp395Asp
p.Asp395Asp
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/67 1449/16271 1185/12225 395/4074 chr6 52059976
chr6:52065043 T
T
 A
A
 4 a0001c0061
a0037c0060
a0038c0062
others(1): Show 
a0001c0061
a0037c0060
a0038c0062
a0043c0063
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 synonymous_variant LOW c.888A>T
c.888A>T
 p.Pro296Pro
p.Pro296Pro
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/67 1152/16271 888/12225 296/4074 chr6 52065043
chr6:52066070 T
T
 C
C
 1 a0004c0064
a0004c0064
 1 HG03669.hp2
HG03669.hp2
 synonymous_variant LOW c.786A>G
c.786A>G
 p.Leu262Leu
p.Leu262Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/67 1050/16271 786/12225 262/4074 chr6 52066070
chr6:52069502 G
G
 A
A
 1 a0002c0065
a0002c0065
 1 HG03453.hp2
HG03453.hp2
 synonymous_variant LOW c.733C>T
c.733C>T
 p.Leu245Leu
p.Leu245Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/67 997/16271 733/12225 245/4074 chr6 52069502
chr6:52071043 A
A
 C
C
 1 a0039c0066
a0039c0066
 1 HG06807.hp1
HG06807.hp1
 synonymous_variant LOW c.630T>G
c.630T>G
 p.Leu210Leu
p.Leu210Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/67 894/16271 630/12225 210/4074 chr6 52071043
chr6:52082439 G
G
 A
A
 31 a0001c0002
a0001c0009
a0001c0019
others(28): Show 
a0001c0002
a0001c0009
a0001c0019
a0001c0082
a0001c0083
a0002c0004
a0002c0020
a0002c0077
a0002c0079
a0002c0080
a0006c0076
a0006c0078
a0009c0087
a0013c0095
a0016c0090
a0017c0089
a0024c0068
a0025c0072
a0026c0073
a0027c0069
a0028c0071
a0029c0070
a0034c0085
a0035c0086
a0036c0074
a0039c0066
a0040c0081
a0041c0088
a0044c0075
a0045c0084
a0046c0067
 43 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
 synonymous_variant LOW c.234C>T
c.234C>T
 p.Asp78Asp
p.Asp78Asp
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/67 498/16271 234/12225 78/4074 chr6 52082439
chr6:52082459 G
G
 A
A
 6 a0001c0022
a0001c0093
a0001c0094
others(3): Show 
a0001c0022
a0001c0093
a0001c0094
a0002c0021
a0002c0091
a0002c0092
 8 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(5): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02155.hp1
HG02809.hp1
HG03540.hp2
NA18971.hp2
NA19003.hp2
 synonymous_variant LOW c.214C>T
c.214C>T
 p.Leu72Leu
p.Leu72Leu
 PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/67 478/16271 214/12225 72/4074 chr6 52082459

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr6:51615688 G
G
 T
T
 68 a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
others(65): Show 
a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
a0001c0009t0001
a0001c0010t0001
a0001c0019t0001
a0001c0022t0001
a0001c0032t0001
a0001c0034t0001
a0001c0061t0001
a0001c0082t0001
a0001c0083t0001
a0001c0093t0001
a0001c0094t0001
a0002c0004t0004
a0002c0004t0010
a0002c0005t0004
a0002c0020t0008
a0002c0021t0004
a0002c0092t0004
a0003c0007t0001
a0003c0012t0001
a0003c0013t0001
a0003c0015t0001
a0003c0016t0001
a0003c0036t0001
a0003c0041t0001
a0003c0048t0001
a0004c0008t0004
a0004c0014t0004
a0004c0047t0019
a0005c0037t0001
a0005c0038t0001
a0005c0039t0001
a0005c0040t0001
a0007c0003t0001
a0008c0018t0020
a0008c0053t0016
a0009c0054t0001
a0009c0056t0001
a0009c0087t0001
a0010c0026t0001
a0010c0028t0001
a0010c0030t0001
a0013c0095t0014
a0014c0024t0001
a0015c0025t0001
a0016c0090t0001
a0018c0052t0006
a0019c0049t0001
a0020c0050t0001
a0021c0045t0001
a0023c0044t0001
a0024c0068t0001
a0025c0072t0001
a0027c0069t0018
a0029c0070t0008
a0032c0058t0001
a0033c0059t0008
a0034c0085t0004
a0035c0086t0001
a0040c0081t0001
a0041c0088t0006
a0042c0035t0006
a0044c0075t0001
a0045c0084t0006
a0047c0051t0004
a0048c0023t0017
 93 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(90): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3393C>A
c.*3393C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 3393 chr6 51615688
chr6:51616055 T
T
 C
C
 77 a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
others(74): Show 
a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
a0001c0009t0001
a0001c0010t0001
a0001c0019t0001
a0001c0022t0001
a0001c0032t0001
a0001c0034t0001
a0001c0061t0001
a0001c0082t0001
a0001c0083t0001
a0001c0093t0001
a0001c0094t0001
a0002c0004t0004
a0002c0004t0010
a0002c0005t0004
a0002c0020t0008
a0002c0021t0004
a0002c0092t0004
a0003c0007t0001
a0003c0012t0001
a0003c0013t0001
a0003c0015t0001
a0003c0016t0001
a0003c0036t0001
a0003c0041t0001
a0003c0048t0001
a0004c0008t0004
a0004c0014t0004
a0004c0047t0019
a0005c0037t0001
a0005c0038t0001
a0005c0039t0001
a0005c0040t0001
a0006c0011t0005
a0006c0076t0005
a0006c0078t0005
a0007c0003t0001
a0008c0018t0020
a0008c0053t0016
a0009c0054t0001
a0009c0056t0001
a0009c0087t0001
a0010c0026t0001
a0010c0028t0001
a0010c0030t0001
a0011c0017t0005
a0013c0095t0014
a0014c0024t0001
a0015c0025t0001
a0016c0090t0001
a0018c0052t0006
a0019c0049t0001
a0020c0050t0001
a0021c0045t0001
a0023c0044t0001
a0024c0068t0001
a0025c0072t0001
a0026c0073t0005
a0027c0069t0018
a0028c0071t0012
a0029c0070t0008
a0031c0057t0013
a0032c0058t0001
a0033c0059t0008
a0034c0085t0004
a0035c0086t0001
a0037c0060t0005
a0040c0081t0001
a0041c0088t0006
a0042c0035t0006
a0043c0063t0005
a0044c0075t0001
a0045c0084t0006
a0047c0051t0004
a0048c0023t0017
 104 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(101): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3026A>G
c.*3026A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 3026 chr6 51616055
chr6:51616056 G
G
 A
A
 7 a0002c0020t0008
a0018c0052t0006
a0029c0070t0008
others(4): Show 
a0002c0020t0008
a0018c0052t0006
a0029c0070t0008
a0033c0059t0008
a0041c0088t0006
a0042c0035t0006
a0045c0084t0006
 7 HG01175.hp1
HG02280.hp1
HG02970.hp1
others(4): Show 
HG01175.hp1
HG02280.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
 3_prime_UTR_variant MODIFIER c.*3025C>T
c.*3025C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 3025 chr6 51616056
chr6:51616415 C
C
 T
T
 2 a0027c0069t0018
a0048c0023t0017
a0027c0069t0018
a0048c0023t0017
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 3_prime_UTR_variant MODIFIER c.*2666G>A
c.*2666G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2666 chr6 51616415
chr6:51616517 T
T
 C
C
 90 a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
others(87): Show 
a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
a0001c0009t0001
a0001c0010t0001
a0001c0019t0001
a0001c0022t0001
a0001c0032t0001
a0001c0034t0001
a0001c0061t0001
a0001c0082t0001
a0001c0083t0001
a0001c0093t0001
a0001c0094t0001
a0002c0004t0003
a0002c0004t0004
a0002c0004t0010
a0002c0005t0004
a0002c0020t0003
a0002c0020t0008
a0002c0021t0004
a0002c0031t0003
a0002c0065t0007
a0002c0079t0007
a0002c0091t0007
a0002c0092t0004
a0003c0007t0001
a0003c0012t0001
a0003c0013t0001
a0003c0015t0001
a0003c0016t0001
a0003c0036t0001
a0003c0041t0001
a0003c0048t0001
a0004c0006t0003
a0004c0008t0003
a0004c0008t0004
a0004c0008t0011
a0004c0014t0004
a0004c0047t0019
a0004c0064t0003
a0005c0037t0001
a0005c0038t0001
a0005c0039t0001
a0005c0040t0001
a0006c0011t0005
a0006c0076t0005
a0006c0078t0005
a0007c0003t0001
a0008c0018t0020
a0008c0053t0016
a0009c0054t0001
a0009c0056t0001
a0009c0087t0001
a0010c0026t0001
a0010c0028t0001
a0010c0030t0001
a0011c0017t0005
a0013c0095t0014
a0014c0024t0001
a0015c0025t0001
a0016c0090t0001
a0018c0052t0006
a0019c0049t0001
a0020c0050t0001
a0021c0045t0001
a0023c0044t0001
a0024c0068t0001
a0025c0072t0001
a0026c0073t0005
a0027c0069t0018
a0028c0071t0012
a0029c0070t0008
a0031c0057t0013
a0032c0058t0001
a0033c0059t0008
a0034c0085t0004
a0035c0086t0001
a0036c0074t0003
a0037c0060t0005
a0039c0066t0003
a0040c0081t0001
a0041c0088t0006
a0042c0035t0006
a0043c0063t0005
a0044c0075t0001
a0045c0084t0006
a0046c0067t0003
a0047c0051t0004
a0048c0023t0017
 118 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2564A>G
c.*2564A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2564 chr6 51616517
chr6:51616527 A
A
 AT
AT
 13 a0002c0004t0004
a0002c0004t0010
a0002c0005t0004
others(10): Show 
a0002c0004t0004
a0002c0004t0010
a0002c0005t0004
a0002c0021t0004
a0002c0092t0004
a0004c0008t0004
a0004c0014t0004
a0004c0043t0015
a0004c0047t0019
a0008c0018t0020
a0034c0085t0004
a0047c0051t0004
a0048c0023t0017
 15 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(12): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG02015.hp1
HG02155.hp1
HG02257.hp1
HG02622.hp1
HG02683.hp1
HG03098.hp1
HG03139.hp2
HG04228.hp2
NA19001.hp2
NA19003.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*2553dupA
c.*2553dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2553 chr6 51616527
chr6:51616527 AT
AT
 A
A
 5 a0001c0002t0009
a0002c0020t0008
a0029c0070t0008
others(2): Show 
a0001c0002t0009
a0002c0020t0008
a0029c0070t0008
a0031c0057t0013
a0033c0059t0008
 6 HG01175.hp1
HG02896.hp1
HG02896.hp2
others(3): Show 
HG01175.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG03471.hp1
HG03471.hp2
 3_prime_UTR_variant MODIFIER c.*2553delA
c.*2553delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2553 chr6 51616527
chr6:51616562 TAACTATG
others(64): Show 
TAACTATGGGTTGAGGAATTTTAGCTAGATGCCAAAATTCCATGCCACAT
GCTAGAGCCTGGCAAGTTACTG
 T
T
 1 a0004c0008t0011
a0004c0008t0011
 1 NA18964.hp2
NA18964.hp2
 3_prime_UTR_variant MODIFIER c.*2448_*2518delCAGT
others(67): Show 
c.*2448_*2518delCAGTAACTTGCCAGGCTCTAGCATGTGGCATGGA
ATTTTGGCATCTAGCTAAAATTCCTCAACCCATAGTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2448 chr6 51616562
chr6:51616873 T
T
 C
C
 21 a0002c0004t0004
a0002c0004t0010
a0002c0005t0004
others(18): Show 
a0002c0004t0004
a0002c0004t0010
a0002c0005t0004
a0002c0020t0008
a0002c0021t0004
a0002c0092t0004
a0004c0008t0004
a0004c0014t0004
a0004c0047t0019
a0008c0018t0020
a0008c0053t0016
a0018c0052t0006
a0027c0069t0018
a0029c0070t0008
a0033c0059t0008
a0034c0085t0004
a0041c0088t0006
a0042c0035t0006
a0045c0084t0006
a0047c0051t0004
a0048c0023t0017
 23 HG00423.hp1
HG00738.hp1
HG01081.hp1
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG02015.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02622.hp1
HG02683.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG04228.hp2
NA19001.hp2
NA19003.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*2208A>G
c.*2208A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2208 chr6 51616873
chr6:51616880 C
C
 T
T
 1 a0013c0095t0014
a0013c0095t0014
 1 HG03704.hp1
HG03704.hp1
 3_prime_UTR_variant MODIFIER c.*2201G>A
c.*2201G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2201 chr6 51616880
chr6:51616999 T
T
 C
C
 2 a0027c0069t0018
a0048c0023t0017
a0027c0069t0018
a0048c0023t0017
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 3_prime_UTR_variant MODIFIER c.*2082A>G
c.*2082A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2082 chr6 51616999
chr6:51617017 C
C
 A
A
 2 a0004c0047t0019
a0008c0018t0020
a0004c0047t0019
a0008c0018t0020
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*2064G>T
c.*2064G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 2064 chr6 51617017
chr6:51617444 C
C
 T
T
 3 a0002c0065t0007
a0002c0079t0007
a0002c0091t0007
a0002c0065t0007
a0002c0079t0007
a0002c0091t0007
 3 HG01255.hp1
HG03453.hp2
HG03540.hp2
HG01255.hp1
HG03453.hp2
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*1637G>A
c.*1637G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 1637 chr6 51617444
chr6:51617921 TCTCTTTT
others(6): Show 
TCTCTTTTTGGAAG
 T
T
 2 a0028c0071t0012
a0031c0057t0013
a0028c0071t0012
a0031c0057t0013
 2 HG00741.hp1
HG02896.hp1
HG00741.hp1
HG02896.hp1
 3_prime_UTR_variant MODIFIER c.*1147_*1159delCTTC
others(9): Show 
c.*1147_*1159delCTTCCAAAAAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 1147 chr6 51617921
chr6:51618163 A
A
 T
T
 1 a0004c0008t0011
a0004c0008t0011
 1 NA18964.hp2
NA18964.hp2
 3_prime_UTR_variant MODIFIER c.*918T>A
c.*918T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 918 chr6 51618163
chr6:51618470 T
T
 C
C
 1 a0008c0018t0020
a0008c0018t0020
 1 HG03098.hp1
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*611A>G
c.*611A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 611 chr6 51618470
chr6:51618477 G
G
 T
T
 1 a0002c0004t0010
a0002c0004t0010
 1 HG02683.hp1
HG02683.hp1
 3_prime_UTR_variant MODIFIER c.*604C>A
c.*604C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 604 chr6 51618477
chr6:51618707 A
A
 G
G
 103 a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
others(100): Show 
a0001c0001t0001
a0001c0002t0001
a0001c0002t0009
a0001c0009t0001
a0001c0010t0001
a0001c0019t0001
a0001c0022t0001
a0001c0032t0001
a0001c0034t0001
a0001c0061t0001
a0001c0082t0001
a0001c0083t0001
a0001c0093t0001
a0001c0094t0001
a0002c0004t0003
a0002c0004t0004
a0002c0004t0010
a0002c0005t0002
a0002c0005t0004
a0002c0020t0003
a0002c0020t0008
a0002c0021t0004
a0002c0031t0003
a0002c0033t0002
a0002c0065t0007
a0002c0077t0002
a0002c0079t0007
a0002c0080t0002
a0002c0091t0007
a0002c0092t0004
a0003c0007t0001
a0003c0012t0001
a0003c0013t0001
a0003c0015t0001
a0003c0016t0001
a0003c0036t0001
a0003c0041t0001
a0003c0048t0001
a0004c0006t0002
a0004c0006t0003
a0004c0008t0003
a0004c0008t0004
a0004c0008t0011
a0004c0014t0004
a0004c0043t0015
a0004c0046t0002
a0004c0047t0019
a0004c0064t0003
a0005c0037t0001
a0005c0038t0001
a0005c0039t0001
a0005c0040t0001
a0006c0011t0005
a0006c0076t0005
a0006c0078t0005
a0007c0003t0001
a0008c0018t0020
a0008c0053t0016
a0009c0054t0001
a0009c0056t0001
a0009c0087t0001
a0010c0026t0001
a0010c0028t0001
a0010c0030t0001
a0011c0017t0005
a0012c0027t0002
a0012c0029t0002
a0013c0095t0014
a0014c0024t0001
a0015c0025t0001
a0016c0090t0001
a0017c0089t0002
a0018c0052t0006
a0019c0049t0001
a0020c0050t0001
a0021c0045t0001
a0022c0042t0002
a0023c0044t0001
a0024c0068t0001
a0025c0072t0001
a0026c0073t0005
a0027c0069t0018
a0028c0071t0012
a0029c0070t0008
a0030c0055t0002
a0031c0057t0013
a0032c0058t0001
a0033c0059t0008
a0034c0085t0004
a0035c0086t0001
a0036c0074t0003
a0037c0060t0005
a0038c0062t0002
a0039c0066t0003
a0040c0081t0001
a0041c0088t0006
a0042c0035t0006
a0043c0063t0005
a0044c0075t0001
a0045c0084t0006
a0046c0067t0003
a0047c0051t0004
a0048c0023t0017
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*374T>C
c.*374T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 67/67 374 chr6 51618707

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr6:51619550 G
G
 A
A
 18 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(15): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0003c0012t0001g0032
a0003c0013t0001g0052
a0010c0026t0001g0013
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0023c0044t0001g0044
a0024c0068t0001g0091
 18 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(15): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01952.hp1
HG02015.hp2
HG02040.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03669.hp1
HG04184.hp1
NA18747.hp1
NA18964.hp1
NA18975.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.11786-30C>T
c.11786-30C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51619550
chr6:51619707 C
C
 T
T
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11786-187G>A
c.11786-187G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51619707
chr6:51619754 AT
AT
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0035c0086t0001g0109
a0040c0081t0001g0124
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11786-235delA
c.11786-235delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51619754
chr6:51619938 A
A
 G
G
 11 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(8): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
 11 HG00741.hp1
HG02280.hp2
HG02451.hp2
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11786-418T>C
c.11786-418T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51619938
chr6:51620645 G
G
 A
A
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11786-1125C>T
c.11786-1125C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620645
chr6:51620787 C
C
 CATATAT
CATATAT
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11786-1273_11786-1
others(12): Show 
c.11786-1273_11786-1268dupATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620787
chr6:51620798 ATG
ATG
 A
A
 3 a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 3 NA18975.hp2
NA18989.hp1
NA19090.hp1
NA18975.hp2
NA18989.hp1
NA19090.hp1
 intron_variant MODIFIER c.11786-1280_11786-1
others(8): Show 
c.11786-1280_11786-1279delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620798
chr6:51620800 G
G
 A
A
 124 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(121): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 124 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(121): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11786-1280C>T
c.11786-1280C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620800
chr6:51620800 GTA
GTA
 G
G
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.11786-1282_11786-1
others(8): Show 
c.11786-1282_11786-1281delTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620800
chr6:51620802 A
A
 ATG
ATG
 2 a0003c0007t0001g0043
a0004c0008t0003g0003
a0003c0007t0001g0043
a0004c0008t0003g0003
 2 HG01175.hp2
HG01496.hp2
HG01175.hp2
HG01496.hp2
 intron_variant MODIFIER c.11786-1283_11786-1
others(8): Show 
c.11786-1283_11786-1282insCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620802
chr6:51620802 A
A
 G
G
 123 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(120): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 123 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(120): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11786-1282T>C
c.11786-1282T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620802
chr6:51620804 A
A
 G
G
 3 a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 3 NA18975.hp2
NA18989.hp1
NA19090.hp1
NA18975.hp2
NA18989.hp1
NA19090.hp1
 intron_variant MODIFIER c.11786-1284T>C
c.11786-1284T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620804
chr6:51620911 C
C
 T
T
 14 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
others(11): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0092t0004g0002
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0047t0019g0015
a0008c0018t0020g0074
a0008c0053t0016g0069
a0034c0085t0004g0096
a0047c0051t0004g0056
 14 HG00423.hp1
HG00738.hp1
HG01081.hp1
others(11): Show 
HG00423.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02155.hp1
HG02257.hp1
HG02683.hp1
HG02965.hp2
HG03098.hp1
HG03139.hp2
HG04228.hp2
NA19001.hp2
NA19003.hp2
NA19090.hp2
 intron_variant MODIFIER c.11786-1391G>A
c.11786-1391G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51620911
chr6:51621554 C
C
 T
T
 1 a0003c0048t0001g0047
a0003c0048t0001g0047
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.11786-2034G>A
c.11786-2034G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51621554
chr6:51621681 C
C
 T
T
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0011c0017t0005g0071
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 5 HG02257.hp1
HG02280.hp2
HG02922.hp1
others(2): Show 
HG02257.hp1
HG02280.hp2
HG02922.hp1
HG03098.hp1
HG03540.hp1
 intron_variant MODIFIER c.11786-2161G>A
c.11786-2161G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51621681
chr6:51622049 G
G
 C
C
 11 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(8): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
 11 HG00741.hp1
HG02280.hp2
HG02451.hp2
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11786-2529C>G
c.11786-2529C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51622049
chr6:51622141 C
C
 A
A
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11786-2621G>T
c.11786-2621G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51622141
chr6:51622380 A
A
 G
G
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11786-2860T>C
c.11786-2860T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51622380
chr6:51622571 A
A
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.11786-3051T>C
c.11786-3051T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51622571
chr6:51622587 T
T
 G
G
 4 a0002c0020t0008g0110
a0018c0052t0006g0086
a0041c0088t0006g0114
others(1): Show 
a0002c0020t0008g0110
a0018c0052t0006g0086
a0041c0088t0006g0114
a0045c0084t0006g0087
 4 HG02280.hp1
HG03041.hp1
HG03139.hp1
others(1): Show 
HG02280.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
 intron_variant MODIFIER c.11786-3067A>C
c.11786-3067A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51622587
chr6:51622618 C
C
 T
T
 93 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(90): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0047c0051t0004g0056
a0048c0023t0017g0081
 93 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(90): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11786-3098G>A
c.11786-3098G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51622618
chr6:51623438 C
C
 T
T
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.11785+3559G>A
c.11785+3559G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51623438
chr6:51623439 T
T
 G
G
 13 a0002c0005t0002g0021
a0002c0033t0002g0017
a0002c0077t0002g0102
others(10): Show 
a0002c0005t0002g0021
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0038c0062t0002g0065
 13 HG01071.hp2
HG01243.hp2
HG01255.hp2
others(10): Show 
HG01071.hp2
HG01243.hp2
HG01255.hp2
HG02055.hp1
HG02818.hp1
HG03041.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
NA18747.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp1
 intron_variant MODIFIER c.11785+3558A>C
c.11785+3558A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51623439
chr6:51623583 C
C
 CTATTTTT
others(2): Show 
CTATTTTTTT
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11785+3405_11785+3
others(15): Show 
c.11785+3405_11785+3413dupAAAAAAATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51623583
chr6:51623615 G
G
 A
A
 3 a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
 3 HG01255.hp1
HG03453.hp2
HG03540.hp2
HG01255.hp1
HG03453.hp2
HG03540.hp2
 intron_variant MODIFIER c.11785+3382C>T
c.11785+3382C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51623615
chr6:51623976 G
G
 A
A
 3 a0018c0052t0006g0086
a0041c0088t0006g0114
a0045c0084t0006g0087
a0018c0052t0006g0086
a0041c0088t0006g0114
a0045c0084t0006g0087
 3 HG02280.hp1
HG03041.hp1
HG03139.hp1
HG02280.hp1
HG03041.hp1
HG03139.hp1
 intron_variant MODIFIER c.11785+3021C>T
c.11785+3021C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51623976
chr6:51623991 T
T
 G
G
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11785+3006A>C
c.11785+3006A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51623991
chr6:51624081 G
G
 A
A
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.11785+2916C>T
c.11785+2916C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51624081
chr6:51624261 T
T
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.11785+2736A>G
c.11785+2736A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51624261
chr6:51624266 G
G
 A
A
 9 a0002c0020t0008g0110
a0018c0052t0006g0086
a0027c0069t0018g0092
others(6): Show 
a0002c0020t0008g0110
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 9 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(6): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.11785+2731C>T
c.11785+2731C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51624266
chr6:51624291 A
A
 G
G
 1 a0024c0068t0001g0091
a0024c0068t0001g0091
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.11785+2706T>C
c.11785+2706T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51624291
chr6:51624603 G
G
 T
T
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.11785+2394C>A
c.11785+2394C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51624603
chr6:51624660 G
G
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.11785+2337C>T
c.11785+2337C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51624660
chr6:51624883 G
G
 A
A
 3 a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
 3 HG01255.hp1
HG03453.hp2
HG03540.hp2
HG01255.hp1
HG03453.hp2
HG03540.hp2
 intron_variant MODIFIER c.11785+2114C>T
c.11785+2114C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51624883
chr6:51625150 G
G
 C
C
 39 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
others(36): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0046c0067t0003g0112
 39 HG00741.hp1
HG01071.hp2
HG01074.hp1
others(36): Show 
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02055.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11785+1847C>G
c.11785+1847C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51625150
chr6:51625464 T
T
 A
A
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11785+1533A>T
c.11785+1533A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51625464
chr6:51625667 C
C
 T
T
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.11785+1330G>A
c.11785+1330G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51625667
chr6:51625711 A
A
 G
G
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11785+1286T>C
c.11785+1286T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51625711
chr6:51625761 T
T
 C
C
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11785+1236A>G
c.11785+1236A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51625761
chr6:51626230 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11785+767A>G
c.11785+767A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51626230
chr6:51626278 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11785+719A>G
c.11785+719A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51626278
chr6:51626572 G
G
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11785+425C>A
c.11785+425C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51626572
chr6:51626758 C
C
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11785+239G>C
c.11785+239G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51626758
chr6:51626792 A
A
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.11785+205T>G
c.11785+205T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 66/66 chr6 51626792
chr6:51627154 G
G
 GATAAAAA
others(12): Show 
GATAAAAAGAACATTTTTAT
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-39_11666-38i
others(21): Show 
c.11666-39_11666-38insATAAAAATGTTCTTTTTAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627154
chr6:51627248 T
T
 G
G
 39 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
others(36): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0046c0067t0003g0112
 39 HG00741.hp1
HG01071.hp2
HG01074.hp1
others(36): Show 
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02055.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11666-132A>C
c.11666-132A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627248
chr6:51627335 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-219T>C
c.11666-219T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627335
chr6:51627366 T
T
 A
A
 50 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
others(47): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0053t0016g0069
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0046c0067t0003g0112
 50 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(47): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11666-250A>T
c.11666-250A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627366
chr6:51627371 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-255T>C
c.11666-255T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627371
chr6:51627400 T
T
 G
G
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.11666-284A>C
c.11666-284A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627400
chr6:51627417 G
G
 GA
GA
 11 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
others(8): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0092t0004g0002
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0008c0053t0016g0069
a0034c0085t0004g0096
 11 HG00423.hp1
HG00738.hp1
HG01081.hp1
others(8): Show 
HG00423.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02155.hp1
HG02683.hp1
HG02965.hp2
HG04228.hp2
NA19001.hp2
NA19003.hp2
NA19090.hp2
 intron_variant MODIFIER c.11666-302dupT
c.11666-302dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627417
chr6:51627435 A
A
 C
C
 9 a0002c0020t0008g0110
a0018c0052t0006g0086
a0027c0069t0018g0092
others(6): Show 
a0002c0020t0008g0110
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 9 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(6): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-319T>G
c.11666-319T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627435
chr6:51627488 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-372A>G
c.11666-372A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627488
chr6:51627524 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-408T>C
c.11666-408T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627524
chr6:51627525 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-409A>G
c.11666-409A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627525
chr6:51627611 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-495C>T
c.11666-495C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627611
chr6:51627710 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-594G>A
c.11666-594G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627710
chr6:51627756 T
T
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-640A>T
c.11666-640A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627756
chr6:51627807 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-691A>G
c.11666-691A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627807
chr6:51627915 A
A
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-799T>G
c.11666-799T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627915
chr6:51627919 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-803T>C
c.11666-803T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627919
chr6:51627988 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-872G>A
c.11666-872G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627988
chr6:51627990 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-874T>C
c.11666-874T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51627990
chr6:51628064 C
C
 T
T
 42 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
others(39): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0008c0018t0020g0074
a0008c0053t0016g0069
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0046c0067t0003g0112
a0047c0051t0004g0056
 42 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(39): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02683.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.11666-948G>A
c.11666-948G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628064
chr6:51628069 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-953G>A
c.11666-953G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628069
chr6:51628309 A
A
 G
G
 2 a0001c0061t0001g0064
a0003c0048t0001g0047
a0001c0061t0001g0064
a0003c0048t0001g0047
 2 HG02486.hp2
HG03453.hp1
HG02486.hp2
HG03453.hp1
 intron_variant MODIFIER c.11666-1193T>C
c.11666-1193T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628309
chr6:51628459 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1343G>A
c.11666-1343G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628459
chr6:51628483 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1367T>C
c.11666-1367T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628483
chr6:51628544 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1428T>C
c.11666-1428T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628544
chr6:51628555 T
T
 C
C
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.11666-1439A>G
c.11666-1439A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628555
chr6:51628590 C
C
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1474G>T
c.11666-1474G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628590
chr6:51628654 T
T
 C
C
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11666-1538A>G
c.11666-1538A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628654
chr6:51628722 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1606G>A
c.11666-1606G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628722
chr6:51628727 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1611G>A
c.11666-1611G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628727
chr6:51628848 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1732G>A
c.11666-1732G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628848
chr6:51628851 T
T
 A
A
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.11666-1735A>T
c.11666-1735A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628851
chr6:51628862 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1746A>G
c.11666-1746A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628862
chr6:51628866 G
G
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-1750C>G
c.11666-1750C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628866
chr6:51628900 T
T
 C
C
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.11666-1784A>G
c.11666-1784A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628900
chr6:51628956 C
C
 A
A
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11666-1840G>T
c.11666-1840G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51628956
chr6:51629014 T
T
 C
C
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11666-1898A>G
c.11666-1898A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629014
chr6:51629092 AC
AC
 A
A
 4 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(1): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 4 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(1): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.11666-1977delG
c.11666-1977delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629092
chr6:51629136 A
A
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2020T>A
c.11666-2020T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629136
chr6:51629167 G
G
 A
A
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.11666-2051C>T
c.11666-2051C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629167
chr6:51629213 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2097A>G
c.11666-2097A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629213
chr6:51629220 G
G
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2104C>G
c.11666-2104C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629220
chr6:51629258 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2142C>T
c.11666-2142C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629258
chr6:51629336 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2220C>T
c.11666-2220C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629336
chr6:51629453 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2337C>T
c.11666-2337C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629453
chr6:51629591 CAAG
CAAG
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2478_11666-2
others(9): Show 
c.11666-2478_11666-2476delCTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629591
chr6:51629660 A
A
 C
C
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.11666-2544T>G
c.11666-2544T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629660
chr6:51629797 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11666-2681C>T
c.11666-2681C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629797
chr6:51629857 C
C
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+2708G>C
c.11665+2708G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51629857
chr6:51630090 A
A
 G
G
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0132
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0132
a0001c0034t0001g0016
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0035c0086t0001g0109
a0044c0075t0001g0119
 15 HG00741.hp2
HG01175.hp2
HG01496.hp1
others(12): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02040.hp1
HG04184.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.11665+2475T>C
c.11665+2475T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630090
chr6:51630092 T
T
 G
G
 11 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
others(8): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0036c0074t0003g0108
a0039c0066t0003g0098
a0046c0067t0003g0112
 11 HG01074.hp1
HG01106.hp2
HG01496.hp2
others(8): Show 
HG01074.hp1
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG03239.hp1
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.11665+2473A>C
c.11665+2473A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630092
chr6:51630164 C
C
 T
T
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11665+2401G>A
c.11665+2401G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630164
chr6:51630179 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+2386A>G
c.11665+2386A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630179
chr6:51630180 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+2385A>G
c.11665+2385A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630180
chr6:51630715 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+1850A>G
c.11665+1850A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630715
chr6:51630764 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+1801T>C
c.11665+1801T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630764
chr6:51630828 C
C
 T
T
 11 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
others(8): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0036c0074t0003g0108
a0039c0066t0003g0098
a0046c0067t0003g0112
 11 HG01074.hp1
HG01106.hp2
HG01496.hp2
others(8): Show 
HG01074.hp1
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG03239.hp1
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.11665+1737G>A
c.11665+1737G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630828
chr6:51630897 A
A
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+1668T>G
c.11665+1668T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630897
chr6:51630963 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+1602T>C
c.11665+1602T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630963
chr6:51630998 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+1567T>C
c.11665+1567T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51630998
chr6:51631370 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0035c0086t0001g0109
a0044c0075t0001g0119
 71 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11665+1195A>G
c.11665+1195A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631370
chr6:51631410 T
T
 C
C
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11665+1155A>G
c.11665+1155A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631410
chr6:51631446 G
G
 T
T
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.11665+1119C>A
c.11665+1119C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631446
chr6:51631517 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.11665+1048G>A
c.11665+1048G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631517
chr6:51631798 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+767C>T
c.11665+767C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631798
chr6:51631827 C
C
 T
T
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.11665+738G>A
c.11665+738G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631827
chr6:51631886 C
C
 T
T
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.11665+679G>A
c.11665+679G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631886
chr6:51631911 G
G
 A
A
 1 a0034c0085t0004g0096
a0034c0085t0004g0096
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.11665+654C>T
c.11665+654C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631911
chr6:51631939 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+626G>A
c.11665+626G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631939
chr6:51631949 T
T
 C
C
 1 a0003c0016t0001g0027
a0003c0016t0001g0027
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.11665+616A>G
c.11665+616A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51631949
chr6:51632026 C
C
 T
T
 25 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
others(22): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0046c0067t0003g0112
 25 HG01071.hp2
HG01074.hp1
HG01106.hp2
others(22): Show 
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp2
HG02055.hp1
HG02155.hp2
HG02818.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19005.hp1
 intron_variant MODIFIER c.11665+539G>A
c.11665+539G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632026
chr6:51632068 C
C
 T
T
 17 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
others(14): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0092t0004g0002
a0004c0014t0004g0024
a0004c0014t0004g0033
a0008c0053t0016g0069
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0034c0085t0004g0096
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 17 HG00423.hp1
HG00738.hp1
HG01081.hp1
others(14): Show 
HG00423.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG02015.hp1
HG02280.hp1
HG02622.hp1
HG02683.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
HG04228.hp2
NA19003.hp2
NA19090.hp2
 intron_variant MODIFIER c.11665+497G>A
c.11665+497G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632068
chr6:51632089 A
A
 G
G
 2 a0003c0012t0001g0032
a0010c0026t0001g0013
a0003c0012t0001g0032
a0010c0026t0001g0013
 2 HG00423.hp2
NA19007.hp1
HG00423.hp2
NA19007.hp1
 intron_variant MODIFIER c.11665+476T>C
c.11665+476T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632089
chr6:51632287 T
T
 C
C
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11665+278A>G
c.11665+278A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632287
chr6:51632348 T
T
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+217A>T
c.11665+217A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632348
chr6:51632517 C
C
 CT
CT
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+47dupA
c.11665+47dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632517
chr6:51632517 CT
CT
 C
C
 4 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
others(1): Show 
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0044c0075t0001g0119
 4 HG02280.hp2
HG02922.hp1
HG03540.hp1
others(1): Show 
HG02280.hp2
HG02922.hp1
HG03540.hp1
NA19007.hp2
 intron_variant MODIFIER c.11665+47delA
c.11665+47delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632517
chr6:51632546 T
T
 TA
TA
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11665+18dupT
c.11665+18dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 65/66 chr6 51632546
chr6:51632744 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-21A>G
c.11507-21A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51632744
chr6:51632851 A
A
 G
G
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11507-128T>C
c.11507-128T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51632851
chr6:51633148 A
A
 T
T
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.11507-425T>A
c.11507-425T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633148
chr6:51633149 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-426A>G
c.11507-426A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633149
chr6:51633191 G
G
 A
A
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.11507-468C>T
c.11507-468C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633191
chr6:51633365 T
T
 G
G
 6 a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
others(3): Show 
a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 6 HG01175.hp1
HG02280.hp1
HG02970.hp1
others(3): Show 
HG01175.hp1
HG02280.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-642A>C
c.11507-642A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633365
chr6:51633391 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-668G>A
c.11507-668G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633391
chr6:51633515 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-792T>C
c.11507-792T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633515
chr6:51633545 G
G
 A
A
 2 a0002c0004t0003g0126
a0004c0064t0003g0053
a0002c0004t0003g0126
a0004c0064t0003g0053
 2 HG03239.hp1
HG03669.hp2
HG03239.hp1
HG03669.hp2
 intron_variant MODIFIER c.11507-822C>T
c.11507-822C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633545
chr6:51633900 T
T
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1177A>C
c.11507-1177A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633900
chr6:51633977 T
T
 C
C
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.11507-1254A>G
c.11507-1254A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51633977
chr6:51634020 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1297G>A
c.11507-1297G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634020
chr6:51634120 C
C
 A
A
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.11507-1397G>T
c.11507-1397G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634120
chr6:51634222 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1499G>A
c.11507-1499G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634222
chr6:51634330 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1607G>A
c.11507-1607G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634330
chr6:51634345 T
T
 C
C
 6 a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
others(3): Show 
a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 6 HG01175.hp1
HG02280.hp1
HG02970.hp1
others(3): Show 
HG01175.hp1
HG02280.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1622A>G
c.11507-1622A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634345
chr6:51634421 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1698T>C
c.11507-1698T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634421
chr6:51634440 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1717G>A
c.11507-1717G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634440
chr6:51634685 C
C
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-1962G>T
c.11507-1962G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634685
chr6:51634891 A
A
 C
C
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.11507-2168T>G
c.11507-2168T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51634891
chr6:51635019 A
A
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-2296T>A
c.11507-2296T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635019
chr6:51635214 G
G
 A
A
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11507-2491C>T
c.11507-2491C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635214
chr6:51635286 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-2563T>C
c.11507-2563T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635286
chr6:51635359 G
G
 A
A
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.11507-2636C>T
c.11507-2636C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635359
chr6:51635429 C
C
 A
A
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11507-2706G>T
c.11507-2706G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635429
chr6:51635536 C
C
 G
G
 4 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(1): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 4 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(1): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19090.hp1
 intron_variant MODIFIER c.11507-2813G>C
c.11507-2813G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635536
chr6:51635572 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-2849G>A
c.11507-2849G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635572
chr6:51635598 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-2875T>C
c.11507-2875T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635598
chr6:51635621 T
T
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-2898A>C
c.11507-2898A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635621
chr6:51635630 C
C
 T
T
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11507-2907G>A
c.11507-2907G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635630
chr6:51635720 T
T
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-2997A>C
c.11507-2997A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635720
chr6:51635726 T
T
 C
C
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.11507-3003A>G
c.11507-3003A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635726
chr6:51635727 T
T
 TGAG
TGAG
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11507-3007_11507-3
others(9): Show 
c.11507-3007_11507-3005dupCTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635727
chr6:51635754 A
A
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.11507-3031T>A
c.11507-3031T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635754
chr6:51635820 G
G
 A
A
 1 a0003c0007t0001g0043
a0003c0007t0001g0043
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.11506+3029C>T
c.11506+3029C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635820
chr6:51635858 T
T
 TG
TG
 46 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(43): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0130
a0003c0007t0001g0049
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0008t0011g0026
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0076t0005g0088
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0025c0072t0001g0095
a0032c0058t0001g0070
a0035c0086t0001g0109
 46 HG00423.hp2
HG00738.hp2
HG01071.hp1
others(43): Show 
HG00423.hp2
HG00738.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA19054.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.11506+2990dupC
c.11506+2990dupC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635858
chr6:51635866 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.11506+2983C>T
c.11506+2983C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635866
chr6:51635867 GC
GC
 G
G
 14 a0002c0004t0003g0085
a0002c0005t0002g0021
a0002c0031t0003g0014
others(11): Show 
a0002c0004t0003g0085
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0033t0002g0017
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0014t0004g0033
a0004c0064t0003g0053
a0008c0053t0016g0069
a0022c0042t0002g0051
a0030c0055t0002g0072
a0036c0074t0003g0108
a0038c0062t0002g0065
 14 HG01106.hp2
HG02015.hp1
HG02055.hp1
others(11): Show 
HG01106.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp2
HG02818.hp1
HG02965.hp2
HG03041.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp2
 intron_variant MODIFIER c.11506+2981delG
c.11506+2981delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635867
chr6:51635868 C
C
 G
G
 28 a0001c0002t0009g0100
a0001c0094t0001g0131
a0002c0004t0003g0126
others(25): Show 
a0001c0002t0009g0100
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0012t0001g0025
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0046t0002g0050
a0004c0047t0019g0015
a0007c0003t0001g0008
a0008c0018t0020g0074
a0009c0054t0001g0082
a0010c0030t0001g0007
a0017c0089t0002g0116
a0028c0071t0012g0093
a0034c0085t0004g0096
a0040c0081t0001g0124
a0046c0067t0003g0112
 28 HG00423.hp1
HG00741.hp1
HG00741.hp2
others(25): Show 
HG00423.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01496.hp2
HG02257.hp1
HG02683.hp1
HG02809.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp1
HG03239.hp1
HG03471.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18964.hp2
NA18971.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19090.hp1
NA19090.hp2
 intron_variant MODIFIER c.11506+2981G>C
c.11506+2981G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635868
chr6:51635875 C
C
 G
G
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11506+2974G>C
c.11506+2974G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635875
chr6:51635883 G
G
 A
A
 11 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
others(8): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0036c0074t0003g0108
a0039c0066t0003g0098
a0046c0067t0003g0112
 11 HG01074.hp1
HG01106.hp2
HG01496.hp2
others(8): Show 
HG01074.hp1
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG03239.hp1
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.11506+2966C>T
c.11506+2966C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51635883
chr6:51636150 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+2699A>G
c.11506+2699A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636150
chr6:51636209 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+2640T>C
c.11506+2640T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636209
chr6:51636295 G
G
 A
A
 6 a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
others(3): Show 
a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 6 HG01175.hp1
HG02280.hp1
HG02970.hp1
others(3): Show 
HG01175.hp1
HG02280.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+2554C>T
c.11506+2554C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636295
chr6:51636415 C
C
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.11506+2434G>A
c.11506+2434G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636415
chr6:51636420 G
G
 A
A
 39 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
others(36): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0046c0067t0003g0112
 39 HG00741.hp1
HG01071.hp2
HG01074.hp1
others(36): Show 
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02055.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11506+2429C>T
c.11506+2429C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636420
chr6:51636575 A
A
 AACAC
AACAC
 7 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(4): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 7 HG01175.hp1
HG02622.hp1
HG02897.hp2
others(4): Show 
HG01175.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+2270_11506+2
others(10): Show 
c.11506+2270_11506+2273dupGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636575
chr6:51636579 C
C
 G
G
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11506+2270G>C
c.11506+2270G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636579
chr6:51636714 C
C
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+2135G>T
c.11506+2135G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636714
chr6:51636739 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+2110C>T
c.11506+2110C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636739
chr6:51636777 G
G
 A
A
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11506+2072C>T
c.11506+2072C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636777
chr6:51636930 A
A
 T
T
 9 a0002c0020t0008g0110
a0018c0052t0006g0086
a0027c0069t0018g0092
others(6): Show 
a0002c0020t0008g0110
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 9 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(6): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1919T>A
c.11506+1919T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636930
chr6:51636931 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1918C>T
c.11506+1918C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51636931
chr6:51637041 T
T
 A
A
 6 a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
others(3): Show 
a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 6 HG01175.hp1
HG02280.hp1
HG02970.hp1
others(3): Show 
HG01175.hp1
HG02280.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1808A>T
c.11506+1808A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637041
chr6:51637127 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1722A>G
c.11506+1722A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637127
chr6:51637383 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1466T>C
c.11506+1466T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637383
chr6:51637462 T
T
 C
C
 3 a0002c0077t0002g0102
a0004c0043t0015g0057
a0017c0089t0002g0116
a0002c0077t0002g0102
a0004c0043t0015g0057
a0017c0089t0002g0116
 3 HG01071.hp2
HG01243.hp2
HG01255.hp2
HG01071.hp2
HG01243.hp2
HG01255.hp2
 intron_variant MODIFIER c.11506+1387A>G
c.11506+1387A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637462
chr6:51637474 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1375C>T
c.11506+1375C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637474
chr6:51637516 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1333A>G
c.11506+1333A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637516
chr6:51637550 A
A
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.11506+1299T>C
c.11506+1299T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637550
chr6:51637605 T
T
 TA
TA
 50 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
others(47): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0008
a0008c0053t0016g0069
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0046c0067t0003g0112
 50 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(47): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11506+1243dupT
c.11506+1243dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637605
chr6:51637607 A
A
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+1242T>A
c.11506+1242T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637607
chr6:51637904 A
A
 C
C
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.11506+945T>G
c.11506+945T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51637904
chr6:51638000 C
C
 T
T
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.11506+849G>A
c.11506+849G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638000
chr6:51638077 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+772A>G
c.11506+772A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638077
chr6:51638086 T
T
 C
C
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.11506+763A>G
c.11506+763A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638086
chr6:51638191 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+658A>G
c.11506+658A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638191
chr6:51638245 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+604A>G
c.11506+604A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638245
chr6:51638316 C
C
 T
T
 11 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
others(8): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0036c0074t0003g0108
a0039c0066t0003g0098
a0046c0067t0003g0112
 11 HG01074.hp1
HG01106.hp2
HG01496.hp2
others(8): Show 
HG01074.hp1
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG03239.hp1
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.11506+533G>A
c.11506+533G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638316
chr6:51638590 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+259A>G
c.11506+259A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638590
chr6:51638603 G
G
 A
A
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11506+246C>T
c.11506+246C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638603
chr6:51638624 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+225C>T
c.11506+225C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638624
chr6:51638745 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+104G>A
c.11506+104G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638745
chr6:51638771 C
C
 T
T
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11506+78G>A
c.11506+78G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638771
chr6:51638773 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11506+76G>A
c.11506+76G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638773
chr6:51638799 C
C
 CA
CA
 51 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(48): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0054t0001g0082
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0021c0045t0001g0036
a0024c0068t0001g0091
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0035c0086t0001g0109
a0037c0060t0005g0022
a0043c0063t0005g0066
 51 HG00741.hp1
HG00741.hp2
HG01071.hp1
others(48): Show 
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp2
HG02040.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp1
NA18971.hp2
NA18988.hp1
NA19054.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11506+49dupT
c.11506+49dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638799
chr6:51638799 C
C
 CAA
CAA
 9 a0002c0021t0004g0128
a0004c0014t0004g0033
a0006c0011t0005g0063
others(6): Show 
a0002c0021t0004g0128
a0004c0014t0004g0033
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0044c0075t0001g0119
 9 HG00738.hp1
HG02015.hp1
HG02809.hp2
others(6): Show 
HG00738.hp1
HG02015.hp1
HG02809.hp2
HG02965.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.11506+48_11506+49d
others(4): Show 
c.11506+48_11506+49dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638799
chr6:51638799 C
C
 CAAA
CAAA
 8 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
others(5): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0021t0004g0130
a0002c0092t0004g0002
a0004c0008t0004g0045
a0004c0014t0004g0024
a0034c0085t0004g0096
 8 HG00423.hp1
HG01081.hp1
HG02155.hp1
others(5): Show 
HG00423.hp1
HG01081.hp1
HG02155.hp1
HG02683.hp1
HG04228.hp2
NA19001.hp2
NA19003.hp2
NA19090.hp2
 intron_variant MODIFIER c.11506+47_11506+49d
others(5): Show 
c.11506+47_11506+49dupTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638799
chr6:51638799 CA
CA
 C
C
 5 a0005c0037t0001g0038
a0027c0069t0018g0092
a0042c0035t0006g0059
others(2): Show 
a0005c0037t0001g0038
a0027c0069t0018g0092
a0042c0035t0006g0059
a0046c0067t0003g0112
a0048c0023t0017g0081
 5 HG01074.hp1
HG01106.hp1
HG02622.hp1
others(2): Show 
HG01074.hp1
HG01106.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
 intron_variant MODIFIER c.11506+49delT
c.11506+49delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 64/66 chr6 51638799
chr6:51639027 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-71G>A
c.11399-71G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639027
chr6:51639160 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-204A>G
c.11399-204A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639160
chr6:51639383 A
A
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-427T>G
c.11399-427T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639383
chr6:51639464 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-508A>G
c.11399-508A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639464
chr6:51639481 C
C
 A
A
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0132
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0132
a0001c0034t0001g0016
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0035c0086t0001g0109
a0044c0075t0001g0119
 15 HG00741.hp2
HG01175.hp2
HG01496.hp1
others(12): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02040.hp1
HG04184.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.11399-525G>T
c.11399-525G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639481
chr6:51639601 C
C
 CA
CA
 9 a0002c0020t0003g0084
a0018c0052t0006g0086
a0027c0069t0018g0092
others(6): Show 
a0002c0020t0003g0084
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 9 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(6): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
NA18989.hp2
 intron_variant MODIFIER c.11399-646dupT
c.11399-646dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639601
chr6:51639633 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-677C>T
c.11399-677C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639633
chr6:51639788 C
C
 A
A
 3 a0002c0033t0002g0017
a0002c0080t0002g0121
a0012c0027t0002g0005
a0002c0033t0002g0017
a0002c0080t0002g0121
a0012c0027t0002g0005
 3 NA18747.hp2
NA18988.hp2
NA19001.hp1
NA18747.hp2
NA18988.hp2
NA19001.hp1
 intron_variant MODIFIER c.11399-832G>T
c.11399-832G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639788
chr6:51639809 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-853A>G
c.11399-853A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639809
chr6:51639825 G
G
 C
C
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11399-869C>G
c.11399-869C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639825
chr6:51639881 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-925G>A
c.11399-925G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51639881
chr6:51640064 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-1108A>G
c.11399-1108A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51640064
chr6:51640223 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-1267A>G
c.11399-1267A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51640223
chr6:51640457 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-1501A>G
c.11399-1501A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51640457
chr6:51640519 A
A
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-1563T>C
c.11399-1563T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51640519
chr6:51640539 T
T
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-1583A>T
c.11399-1583A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51640539
chr6:51640641 T
T
 G
G
 3 a0018c0052t0006g0086
a0041c0088t0006g0114
a0045c0084t0006g0087
a0018c0052t0006g0086
a0041c0088t0006g0114
a0045c0084t0006g0087
 3 HG02280.hp1
HG03041.hp1
HG03139.hp1
HG02280.hp1
HG03041.hp1
HG03139.hp1
 intron_variant MODIFIER c.11399-1685A>C
c.11399-1685A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51640641
chr6:51641182 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-2226G>A
c.11399-2226G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51641182
chr6:51641285 C
C
 T
T
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.11399-2329G>A
c.11399-2329G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51641285
chr6:51641437 T
T
 A
A
 2 a0003c0007t0001g0049
a0013c0095t0014g0122
a0003c0007t0001g0049
a0013c0095t0014g0122
 2 HG01261.hp2
HG03704.hp1
HG01261.hp2
HG03704.hp1
 intron_variant MODIFIER c.11399-2481A>T
c.11399-2481A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51641437
chr6:51641472 G
G
 A
A
 8 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
others(5): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0092t0004g0002
a0004c0014t0004g0024
a0004c0014t0004g0033
a0034c0085t0004g0096
 8 HG00423.hp1
HG00738.hp1
HG01081.hp1
others(5): Show 
HG00423.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02683.hp1
HG04228.hp2
NA19003.hp2
NA19090.hp2
 intron_variant MODIFIER c.11399-2516C>T
c.11399-2516C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51641472
chr6:51641557 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-2601G>A
c.11399-2601G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51641557
chr6:51641867 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.11399-2911C>T
c.11399-2911C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51641867
chr6:51642084 G
G
 T
T
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.11399-3128C>A
c.11399-3128C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51642084
chr6:51642093 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-3137G>A
c.11399-3137G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51642093
chr6:51642146 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-3190G>A
c.11399-3190G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51642146
chr6:51642232 C
C
 G
G
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11399-3276G>C
c.11399-3276G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51642232
chr6:51642338 A
A
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11399-3382T>A
c.11399-3382T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51642338
chr6:51642480 A
A
 G
G
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11399-3524T>C
c.11399-3524T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51642480
chr6:51642589 C
C
 G
G
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.11399-3633G>C
c.11399-3633G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51642589
chr6:51643213 T
T
 G
G
 37 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
others(34): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0008c0053t0016g0069
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0046c0067t0003g0112
 37 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(34): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp2
HG02683.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.11399-4257A>C
c.11399-4257A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51643213
chr6:51643317 G
G
 A
A
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.11399-4361C>T
c.11399-4361C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51643317
chr6:51643338 T
T
 G
G
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.11399-4382A>C
c.11399-4382A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51643338
chr6:51643394 TA
TA
 T
T
 52 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
others(49): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0046c0067t0003g0112
a0047c0051t0004g0056
 52 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(49): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11399-4439delT
c.11399-4439delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51643394
chr6:51643466 A
A
 G
G
 3 a0018c0052t0006g0086
a0041c0088t0006g0114
a0045c0084t0006g0087
a0018c0052t0006g0086
a0041c0088t0006g0114
a0045c0084t0006g0087
 3 HG02280.hp1
HG03041.hp1
HG03139.hp1
HG02280.hp1
HG03041.hp1
HG03139.hp1
 intron_variant MODIFIER c.11399-4510T>C
c.11399-4510T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51643466
chr6:51643511 C
C
 G
G
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+4520G>C
c.11398+4520G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51643511
chr6:51643526 T
T
 C
C
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11398+4505A>G
c.11398+4505A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51643526
chr6:51644008 T
T
 A
A
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11398+4023A>T
c.11398+4023A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644008
chr6:51644243 A
A
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+3788T>G
c.11398+3788T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644243
chr6:51644289 TTA
TTA
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+3740_11398+3
others(8): Show 
c.11398+3740_11398+3741delTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644289
chr6:51644294 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+3737A>G
c.11398+3737A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644294
chr6:51644417 G
G
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+3614C>T
c.11398+3614C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644417
chr6:51644624 C
C
 T
T
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11398+3407G>A
c.11398+3407G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644624
chr6:51644633 C
C
 A
A
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+3398G>T
c.11398+3398G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644633
chr6:51644661 G
G
 T
T
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11398+3370C>A
c.11398+3370C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644661
chr6:51644685 A
A
 ATTTTGTT
others(3): Show 
ATTTTGTTTTG
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+3336_11398+3
others(16): Show 
c.11398+3336_11398+3345dupCAAAACAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644685
chr6:51644819 T
T
 A
A
 58 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
others(55): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0018c0052t0006g0086
a0022c0042t0002g0051
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 58 HG00738.hp1
HG00741.hp1
HG01071.hp2
others(55): Show 
HG00738.hp1
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11398+3212A>T
c.11398+3212A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644819
chr6:51644838 T
T
 C
C
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+3193A>G
c.11398+3193A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644838
chr6:51644986 G
G
 A
A
 1 a0017c0089t0002g0116
a0017c0089t0002g0116
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.11398+3045C>T
c.11398+3045C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51644986
chr6:51645002 G
G
 A
A
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11398+3029C>T
c.11398+3029C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51645002
chr6:51645415 C
C
 T
T
 11 a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
others(8): Show 
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0004c0006t0002g0055
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0040c0081t0001g0124
 11 HG01071.hp2
HG01243.hp2
HG01255.hp2
others(8): Show 
HG01071.hp2
HG01243.hp2
HG01255.hp2
HG02818.hp1
HG03239.hp2
HG03516.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19005.hp1
 intron_variant MODIFIER c.11398+2616G>A
c.11398+2616G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51645415
chr6:51645540 A
A
 G
G
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.11398+2491T>C
c.11398+2491T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51645540
chr6:51645586 G
G
 A
A
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.11398+2445C>T
c.11398+2445C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51645586
chr6:51645680 G
G
 A
A
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.11398+2351C>T
c.11398+2351C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51645680
chr6:51645847 T
T
 C
C
 2 a0029c0070t0008g0090
a0033c0059t0008g0001
a0029c0070t0008g0090
a0033c0059t0008g0001
 2 HG01175.hp1
HG03471.hp2
HG01175.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+2184A>G
c.11398+2184A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51645847
chr6:51645904 T
T
 C
C
 2 a0027c0069t0018g0092
a0048c0023t0017g0081
a0027c0069t0018g0092
a0048c0023t0017g0081
 2 HG02622.hp1
HG02897.hp2
HG02622.hp1
HG02897.hp2
 intron_variant MODIFIER c.11398+2127A>G
c.11398+2127A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51645904
chr6:51646111 T
T
 C
C
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.11398+1920A>G
c.11398+1920A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51646111
chr6:51646179 C
C
 G
G
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11398+1852G>C
c.11398+1852G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51646179
chr6:51646234 T
T
 G
G
 7 a0001c0001t0001g0019
a0001c0022t0001g0132
a0003c0007t0001g0037
others(4): Show 
a0001c0001t0001g0019
a0001c0022t0001g0132
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0035c0086t0001g0109
 7 HG00741.hp2
HG01175.hp2
HG01496.hp1
others(4): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp1
HG01952.hp2
NA18971.hp2
NA18988.hp1
NA20300.hp2
 intron_variant MODIFIER c.11398+1797A>C
c.11398+1797A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51646234
chr6:51646772 A
A
 G
G
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.11398+1259T>C
c.11398+1259T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51646772
chr6:51646958 C
C
 T
T
 7 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
others(4): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0036c0074t0003g0108
 7 HG01106.hp2
HG01496.hp2
HG02155.hp2
others(4): Show 
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG03239.hp1
HG03669.hp2
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.11398+1073G>A
c.11398+1073G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51646958
chr6:51646977 C
C
 T
T
 8 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(5): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0048c0023t0017g0081
 8 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(5): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+1054G>A
c.11398+1054G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51646977
chr6:51647116 C
C
 G
G
 2 a0002c0021t0004g0128
a0004c0014t0004g0024
a0002c0021t0004g0128
a0004c0014t0004g0024
 2 HG00738.hp1
HG01081.hp1
HG00738.hp1
HG01081.hp1
 intron_variant MODIFIER c.11398+915G>C
c.11398+915G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51647116
chr6:51647232 T
T
 G
G
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.11398+799A>C
c.11398+799A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51647232
chr6:51647512 C
C
 G
G
 9 a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
others(6): Show 
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0047c0051t0004g0056
a0048c0023t0017g0081
 9 HG01175.hp1
HG02280.hp1
HG02622.hp1
others(6): Show 
HG01175.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp2
 intron_variant MODIFIER c.11398+519G>C
c.11398+519G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51647512
chr6:51647566 T
T
 C
C
 6 a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
others(3): Show 
a0018c0052t0006g0086
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 6 HG01175.hp1
HG02280.hp1
HG02970.hp1
others(3): Show 
HG01175.hp1
HG02280.hp1
HG02970.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.11398+465A>G
c.11398+465A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51647566
chr6:51647637 G
G
 A
A
 3 a0002c0021t0004g0130
a0004c0008t0004g0045
a0008c0053t0016g0069
a0002c0021t0004g0130
a0004c0008t0004g0045
a0008c0053t0016g0069
 3 HG02155.hp1
HG02965.hp2
NA19001.hp2
HG02155.hp1
HG02965.hp2
NA19001.hp2
 intron_variant MODIFIER c.11398+394C>T
c.11398+394C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51647637
chr6:51647909 T
T
 C
C
 51 a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
others(48): Show 
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0008c0018t0020g0074
a0008c0053t0016g0069
a0012c0027t0002g0005
a0017c0089t0002g0116
a0018c0052t0006g0086
a0022c0042t0002g0051
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0034c0085t0004g0096
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 51 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(48): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02622.hp1
HG02683.hp1
HG02818.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.11398+122A>G
c.11398+122A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51647909
chr6:51647965 C
C
 G
G
 11 a0004c0047t0019g0015
a0008c0018t0020g0074
a0018c0052t0006g0086
others(8): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0018c0052t0006g0086
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0047c0051t0004g0056
a0048c0023t0017g0081
 11 HG01175.hp1
HG02257.hp1
HG02280.hp1
others(8): Show 
HG01175.hp1
HG02257.hp1
HG02280.hp1
HG02622.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp2
 intron_variant MODIFIER c.11398+66G>C
c.11398+66G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 63/66 chr6 51647965
chr6:51648276 A
A
 C
C
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.11311-158T>G
c.11311-158T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 62/66 chr6 51648276
chr6:51648450 G
G
 A
A
 12 a0002c0020t0008g0110
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0002c0020t0008g0110
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
 12 HG00741.hp1
HG02280.hp2
HG02451.hp2
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG03471.hp1
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11311-332C>T
c.11311-332C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 62/66 chr6 51648450
chr6:51648703 G
G
 A
A
 130 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(127): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 130 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(127): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11310+382C>T
c.11310+382C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 62/66 chr6 51648703
chr6:51649353 G
G
 A
A
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.11175-133C>T
c.11175-133C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649353
chr6:51649358 G
G
 A
A
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.11175-138C>T
c.11175-138C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649358
chr6:51649389 T
T
 C
C
 14 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(11): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
 14 HG00741.hp1
HG01175.hp1
HG02280.hp2
others(11): Show 
HG00741.hp1
HG01175.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG03139.hp2
HG03471.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11175-169A>G
c.11175-169A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649389
chr6:51649394 A
A
 G
G
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.11175-174T>C
c.11175-174T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649394
chr6:51649407 T
T
 C
C
 53 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(50): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0035c0086t0001g0109
a0038c0062t0002g0065
a0044c0075t0001g0119
a0048c0023t0017g0081
 53 HG00741.hp2
HG01071.hp1
HG01074.hp2
others(50): Show 
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp2
HG01433.hp1
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-187A>G
c.11175-187A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649407
chr6:51649612 C
C
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-392G>A
c.11175-392G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649612
chr6:51649664 C
C
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-444G>A
c.11175-444G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649664
chr6:51649810 T
T
 C
C
 120 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(117): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 120 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(117): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-590A>G
c.11175-590A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51649810
chr6:51650390 G
G
 C
C
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.11175-1170C>G
c.11175-1170C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650390
chr6:51650424 G
G
 C
C
 2 a0029c0070t0008g0090
a0033c0059t0008g0001
a0029c0070t0008g0090
a0033c0059t0008g0001
 2 HG01175.hp1
HG03471.hp2
HG01175.hp1
HG03471.hp2
 intron_variant MODIFIER c.11175-1204C>G
c.11175-1204C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650424
chr6:51650439 G
G
 GTTAT
GTTAT
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.11175-1220_11175-1
others(10): Show 
c.11175-1220_11175-1219insATAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650439
chr6:51650440 G
G
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-1220C>A
c.11175-1220C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650440
chr6:51650701 G
G
 A
A
 11 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(8): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 11 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11175-1481C>T
c.11175-1481C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650701
chr6:51650708 G
G
 A
A
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.11175-1488C>T
c.11175-1488C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650708
chr6:51650739 C
C
 G
G
 11 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(8): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 11 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11175-1519G>C
c.11175-1519G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650739
chr6:51650832 T
T
 A
A
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11175-1612A>T
c.11175-1612A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51650832
chr6:51651067 G
G
 T
T
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.11175-1847C>A
c.11175-1847C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51651067
chr6:51651117 C
C
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-1897G>A
c.11175-1897G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51651117
chr6:51651469 T
T
 C
C
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-2249A>G
c.11175-2249A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51651469
chr6:51651607 T
T
 C
C
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-2387A>G
c.11175-2387A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51651607
chr6:51651958 A
A
 G
G
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-2738T>C
c.11175-2738T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51651958
chr6:51652130 T
T
 C
C
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-2910A>G
c.11175-2910A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51652130
chr6:51652160 T
T
 C
C
 4 a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
others(1): Show 
a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
a0045c0084t0006g0087
 4 HG01074.hp2
HG01433.hp1
HG02280.hp1
others(1): Show 
HG01074.hp2
HG01433.hp1
HG02280.hp1
HG03041.hp1
 intron_variant MODIFIER c.11175-2940A>G
c.11175-2940A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51652160
chr6:51652383 A
A
 G
G
 1 a0001c0032t0001g0075
a0001c0032t0001g0075
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.11175-3163T>C
c.11175-3163T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51652383
chr6:51652551 TTATCTCT
others(319): Show 
TTATCTCTCTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA
CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC
TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT
CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT
TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG
ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT
TACAGGCGTGAGCCACCGCGCCCGGCC
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-3657_11175-3
others(6): Show 
c.11175-3657_11175-3332del
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51652551
chr6:51653025 A
A
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-3805T>A
c.11175-3805T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653025
chr6:51653029 T
T
 C
C
 2 a0029c0070t0008g0090
a0033c0059t0008g0001
a0029c0070t0008g0090
a0033c0059t0008g0001
 2 HG01175.hp1
HG03471.hp2
HG01175.hp1
HG03471.hp2
 intron_variant MODIFIER c.11175-3809A>G
c.11175-3809A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653029
chr6:51653092 G
G
 A
A
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-3872C>T
c.11175-3872C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653092
chr6:51653154 T
T
 C
C
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.11175-3934A>G
c.11175-3934A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653154
chr6:51653202 T
T
 C
C
 11 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(8): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 11 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11175-3982A>G
c.11175-3982A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653202
chr6:51653204 G
G
 T
T
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0009c0054t0001g0082
a0009c0087t0001g0111
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 27 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.11175-3984C>A
c.11175-3984C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653204
chr6:51653405 A
A
 G
G
 30 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(27): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0004g0045
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0014c0024t0001g0004
a0035c0086t0001g0109
a0044c0075t0001g0119
 30 HG00741.hp2
HG01071.hp1
HG01175.hp2
others(27): Show 
HG00741.hp2
HG01071.hp1
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp2
HG02698.hp2
HG02717.hp2
HG03225.hp1
HG03486.hp1
HG03669.hp1
HG03704.hp2
HG04184.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11175-4185T>C
c.11175-4185T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653405
chr6:51653433 C
C
 G
G
 1 a0009c0056t0001g0073
a0009c0056t0001g0073
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.11175-4213G>C
c.11175-4213G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653433
chr6:51653523 T
T
 G
G
 7 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
a0045c0084t0006g0087
 7 HG01074.hp2
HG01433.hp1
HG02257.hp2
others(4): Show 
HG01074.hp2
HG01433.hp1
HG02257.hp2
HG02280.hp1
HG02717.hp2
HG03041.hp1
HG03225.hp1
 intron_variant MODIFIER c.11175-4303A>C
c.11175-4303A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653523
chr6:51653778 A
A
 G
G
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.11175-4558T>C
c.11175-4558T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653778
chr6:51653937 C
C
 T
T
 2 a0001c0002t0001g0083
a0004c0047t0019g0015
a0001c0002t0001g0083
a0004c0047t0019g0015
 2 HG02257.hp1
NA18975.hp1
HG02257.hp1
NA18975.hp1
 intron_variant MODIFIER c.11175-4717G>A
c.11175-4717G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51653937
chr6:51654174 T
T
 A
A
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.11174+4778A>T
c.11174+4778A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654174
chr6:51654308 G
G
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11174+4644C>A
c.11174+4644C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654308
chr6:51654435 G
G
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.11174+4517C>T
c.11174+4517C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654435
chr6:51654554 G
G
 A
A
 2 a0001c0083t0001g0125
a0001c0094t0001g0131
a0001c0083t0001g0125
a0001c0094t0001g0131
 2 HG02809.hp1
NA20129.hp1
HG02809.hp1
NA20129.hp1
 intron_variant MODIFIER c.11174+4398C>T
c.11174+4398C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654554
chr6:51654643 C
C
 CA
CA
 87 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(84): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0020t0008g0110
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0008t0011g0026
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
 87 HG00423.hp2
HG00738.hp2
HG00741.hp1
others(84): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11174+4308dupT
c.11174+4308dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654643
chr6:51654643 CA
CA
 C
C
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.11174+4308delT
c.11174+4308delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654643
chr6:51654837 G
G
 A
A
 114 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(111): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 114 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(111): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11174+4115C>T
c.11174+4115C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654837
chr6:51654917 A
A
 T
T
 16 a0004c0047t0019g0015
a0006c0011t0005g0063
a0006c0011t0005g0134
others(13): Show 
a0004c0047t0019g0015
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
 16 HG00741.hp1
HG01175.hp1
HG02257.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03471.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11174+4035T>A
c.11174+4035T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51654917
chr6:51655004 C
C
 G
G
 1 a0002c0033t0002g0017
a0002c0033t0002g0017
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.11174+3948G>C
c.11174+3948G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655004
chr6:51655208 G
G
 A
A
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.11174+3744C>T
c.11174+3744C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655208
chr6:51655543 C
C
 G
G
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.11174+3409G>C
c.11174+3409G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655543
chr6:51655586 T
T
 C
C
 6 a0001c0061t0001g0064
a0002c0021t0004g0130
a0003c0048t0001g0047
others(3): Show 
a0001c0061t0001g0064
a0002c0021t0004g0130
a0003c0048t0001g0047
a0004c0008t0004g0045
a0005c0039t0001g0030
a0008c0053t0016g0069
 6 HG02155.hp1
HG02486.hp2
HG02818.hp2
others(3): Show 
HG02155.hp1
HG02486.hp2
HG02818.hp2
HG02965.hp2
HG03453.hp1
NA19001.hp2
 intron_variant MODIFIER c.11174+3366A>G
c.11174+3366A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655586
chr6:51655588 C
C
 G
G
 16 a0004c0047t0019g0015
a0006c0011t0005g0063
a0006c0011t0005g0134
others(13): Show 
a0004c0047t0019g0015
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
 16 HG00741.hp1
HG01175.hp1
HG02257.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03471.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.11174+3364G>C
c.11174+3364G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655588
chr6:51655597 T
T
 C
C
 3 a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
 3 HG01255.hp1
HG03453.hp2
HG03540.hp2
HG01255.hp1
HG03453.hp2
HG03540.hp2
 intron_variant MODIFIER c.11174+3355A>G
c.11174+3355A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655597
chr6:51655766 G
G
 C
C
 2 a0009c0054t0001g0082
a0009c0087t0001g0111
a0009c0054t0001g0082
a0009c0087t0001g0111
 2 HG01243.hp1
HG02976.hp2
HG01243.hp1
HG02976.hp2
 intron_variant MODIFIER c.11174+3186C>G
c.11174+3186C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655766
chr6:51655952 A
A
 G
G
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.11174+3000T>C
c.11174+3000T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51655952
chr6:51656039 A
A
 G
G
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.11174+2913T>C
c.11174+2913T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51656039
chr6:51656212 G
G
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.11174+2740C>T
c.11174+2740C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51656212
chr6:51656448 T
T
 G
G
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
 3 HG02257.hp2
HG02717.hp2
HG03225.hp1
HG02257.hp2
HG02717.hp2
HG03225.hp1
 intron_variant MODIFIER c.11174+2504A>C
c.11174+2504A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51656448
chr6:51656643 G
G
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.11174+2309C>T
c.11174+2309C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51656643
chr6:51656651 T
T
 C
C
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.11174+2301A>G
c.11174+2301A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51656651
chr6:51656663 C
C
 CT
CT
 61 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(58): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0012c0027t0002g0005
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0030c0055t0002g0072
a0034c0085t0004g0096
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 61 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(58): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02683.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.11174+2288dupA
c.11174+2288dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51656663
chr6:51656871 G
G
 T
T
 24 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(21): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 24 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(21): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.11174+2081C>A
c.11174+2081C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51656871
chr6:51657120 TA
TA
 T
T
 113 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(110): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 113 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(110): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11174+1831delT
c.11174+1831delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51657120
chr6:51657620 G
G
 A
A
 1 a0002c0020t0003g0084
a0002c0020t0003g0084
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.11174+1332C>T
c.11174+1332C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51657620
chr6:51657690 G
G
 C
C
 50 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(47): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0005c0037t0001g0038
a0005c0039t0001g0030
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0035c0086t0001g0109
a0038c0062t0002g0065
a0044c0075t0001g0119
a0048c0023t0017g0081
 50 HG00741.hp2
HG01071.hp1
HG01106.hp1
others(47): Show 
HG00741.hp2
HG01071.hp1
HG01106.hp1
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11174+1262C>G
c.11174+1262C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51657690
chr6:51657827 A
A
 G
G
 1 a0003c0013t0001g0052
a0003c0013t0001g0052
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.11174+1125T>C
c.11174+1125T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51657827
chr6:51658815 T
T
 C
C
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.11174+137A>G
c.11174+137A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51658815
chr6:51658941 T
T
 C
C
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.11174+11A>G
c.11174+11A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 61/66 chr6 51658941
chr6:51660020 A
A
 G
G
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.10157-51T>C
c.10157-51T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51660020
chr6:51660278 C
C
 G
G
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.10157-309G>C
c.10157-309G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51660278
chr6:51660403 T
T
 A
A
 11 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(8): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
 11 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-434A>T
c.10157-434A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51660403
chr6:51660608 C
C
 T
T
 6 a0001c0009t0001g0106
a0004c0047t0019g0015
a0008c0018t0020g0074
others(3): Show 
a0001c0009t0001g0106
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 6 HG01175.hp1
HG01261.hp1
HG02257.hp1
others(3): Show 
HG01175.hp1
HG01261.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-639G>A
c.10157-639G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51660608
chr6:51660910 C
C
 G
G
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.10157-941G>C
c.10157-941G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51660910
chr6:51661038 AG
AG
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-1070delC
c.10157-1070delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51661038
chr6:51661107 G
G
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-1138C>T
c.10157-1138C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51661107
chr6:51661648 T
T
 TA
TA
 12 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 12 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-1680dupT
c.10157-1680dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51661648
chr6:51661711 T
T
 C
C
 4 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(1): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 4 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(1): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19090.hp1
 intron_variant MODIFIER c.10157-1742A>G
c.10157-1742A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51661711
chr6:51661879 T
T
 C
C
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-1910A>G
c.10157-1910A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51661879
chr6:51662133 A
A
 G
G
 24 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(21): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 24 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(21): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-2164T>C
c.10157-2164T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662133
chr6:51662348 G
G
 A
A
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.10157-2379C>T
c.10157-2379C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662348
chr6:51662451 A
A
 G
G
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-2482T>C
c.10157-2482T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662451
chr6:51662539 A
A
 G
G
 3 a0002c0020t0008g0110
a0009c0054t0001g0082
a0009c0087t0001g0111
a0002c0020t0008g0110
a0009c0054t0001g0082
a0009c0087t0001g0111
 3 HG01243.hp1
HG02976.hp2
HG03471.hp1
HG01243.hp1
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.10157-2570T>C
c.10157-2570T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662539
chr6:51662571 A
A
 T
T
 2 a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0011t0005g0134
a0006c0076t0005g0088
 2 HG02486.hp1
NA19240.hp1
HG02486.hp1
NA19240.hp1
 intron_variant MODIFIER c.10157-2602T>A
c.10157-2602T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662571
chr6:51662693 C
C
 T
T
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-2724G>A
c.10157-2724G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662693
chr6:51662738 G
G
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.10157-2769C>G
c.10157-2769C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662738
chr6:51662936 A
A
 G
G
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-2967T>C
c.10157-2967T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662936
chr6:51662966 T
T
 A
A
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.10157-2997A>T
c.10157-2997A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51662966
chr6:51663154 T
T
 G
G
 12 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 12 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-3185A>C
c.10157-3185A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51663154
chr6:51663246 T
T
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-3277A>G
c.10157-3277A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51663246
chr6:51663621 T
T
 A
A
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.10157-3652A>T
c.10157-3652A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51663621
chr6:51664186 A
A
 G
G
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0009c0054t0001g0082
a0009c0087t0001g0111
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 27 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-4217T>C
c.10157-4217T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664186
chr6:51664222 G
G
 A
A
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.10157-4253C>T
c.10157-4253C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664222
chr6:51664239 T
T
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.10157-4270A>T
c.10157-4270A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664239
chr6:51664285 G
G
 A
A
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.10157-4316C>T
c.10157-4316C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664285
chr6:51664342 G
G
 T
T
 49 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(46): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0035c0086t0001g0109
a0038c0062t0002g0065
a0044c0075t0001g0119
a0048c0023t0017g0081
 49 HG00741.hp2
HG01071.hp1
HG01106.hp1
others(46): Show 
HG00741.hp2
HG01071.hp1
HG01106.hp1
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-4373C>A
c.10157-4373C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664342
chr6:51664358 G
G
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-4389C>T
c.10157-4389C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664358
chr6:51664493 C
C
 A
A
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.10157-4524G>T
c.10157-4524G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664493
chr6:51664596 A
A
 C
C
 12 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 12 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-4627T>G
c.10157-4627T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664596
chr6:51664817 C
C
 T
T
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-4848G>A
c.10157-4848G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664817
chr6:51664842 A
A
 G
G
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-4873T>C
c.10157-4873T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664842
chr6:51664977 T
T
 C
C
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10157-5008A>G
c.10157-5008A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664977
chr6:51664999 C
C
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-5030G>A
c.10157-5030G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51664999
chr6:51665026 G
G
 T
T
 1 a0003c0013t0001g0052
a0003c0013t0001g0052
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.10157-5057C>A
c.10157-5057C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665026
chr6:51665074 T
T
 C
C
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-5105A>G
c.10157-5105A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665074
chr6:51665135 T
T
 A
A
 17 a0004c0047t0019g0015
a0005c0039t0001g0030
a0006c0011t0005g0063
others(14): Show 
a0004c0047t0019g0015
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
 17 HG00741.hp1
HG01175.hp1
HG02257.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03471.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-5166A>T
c.10157-5166A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665135
chr6:51665159 G
G
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10157-5190C>T
c.10157-5190C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665159
chr6:51665185 C
C
 T
T
 49 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(46): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0035c0086t0001g0109
a0038c0062t0002g0065
a0044c0075t0001g0119
a0048c0023t0017g0081
 49 HG00741.hp2
HG01071.hp1
HG01106.hp1
others(46): Show 
HG00741.hp2
HG01071.hp1
HG01106.hp1
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-5216G>A
c.10157-5216G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665185
chr6:51665421 T
T
 C
C
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-5452A>G
c.10157-5452A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665421
chr6:51665485 T
T
 A
A
 3 a0002c0033t0002g0017
a0002c0080t0002g0121
a0012c0027t0002g0005
a0002c0033t0002g0017
a0002c0080t0002g0121
a0012c0027t0002g0005
 3 NA18747.hp2
NA18988.hp2
NA19001.hp1
NA18747.hp2
NA18988.hp2
NA19001.hp1
 intron_variant MODIFIER c.10157-5516A>T
c.10157-5516A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665485
chr6:51665724 G
G
 C
C
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.10157-5755C>G
c.10157-5755C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665724
chr6:51665967 T
T
 C
C
 23 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(20): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0005c0038t0001g0034
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
 23 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(20): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01952.hp1
HG02040.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18964.hp1
NA18975.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-5998A>G
c.10157-5998A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51665967
chr6:51666020 G
G
 A
A
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.10157-6051C>T
c.10157-6051C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666020
chr6:51666139 AG
AG
 A
A
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0009c0054t0001g0082
a0009c0087t0001g0111
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 27 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-6171delC
c.10157-6171delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666139
chr6:51666249 A
A
 T
T
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.10157-6280T>A
c.10157-6280T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666249
chr6:51666416 C
C
 T
T
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-6447G>A
c.10157-6447G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666416
chr6:51666542 A
A
 AT
AT
 13 a0001c0001t0001g0060
a0001c0009t0001g0103
a0001c0010t0001g0077
others(10): Show 
a0001c0001t0001g0060
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0082t0001g0105
a0001c0094t0001g0131
a0003c0013t0001g0054
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
a0042c0035t0006g0059
 13 HG01175.hp1
HG02257.hp1
HG02622.hp2
others(10): Show 
HG01175.hp1
HG02257.hp1
HG02622.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03471.hp2
HG03516.hp1
NA19240.hp2
 intron_variant MODIFIER c.10157-6574dupA
c.10157-6574dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666542
chr6:51666551 T
T
 A
A
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 39 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(36): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-6582A>T
c.10157-6582A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666551
chr6:51666552 A
A
 T
T
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-6583T>A
c.10157-6583T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666552
chr6:51666926 T
T
 C
C
 12 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 12 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-6957A>G
c.10157-6957A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666926
chr6:51666926 T
T
 G
G
 4 a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
others(1): Show 
a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
a0045c0084t0006g0087
 4 HG01074.hp2
HG01433.hp1
HG02280.hp1
others(1): Show 
HG01074.hp2
HG01433.hp1
HG02280.hp1
HG03041.hp1
 intron_variant MODIFIER c.10157-6957A>C
c.10157-6957A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666926
chr6:51666932 T
T
 C
C
 1 a0003c0041t0001g0046
a0003c0041t0001g0046
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.10157-6963A>G
c.10157-6963A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51666932
chr6:51667107 G
G
 C
C
 16 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(13): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0014t0004g0024
a0004c0014t0004g0033
a0009c0054t0001g0082
a0009c0087t0001g0111
a0034c0085t0004g0096
 16 HG00423.hp1
HG00738.hp1
HG01081.hp1
others(13): Show 
HG00423.hp1
HG00738.hp1
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02976.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG04228.hp2
NA19003.hp2
NA19090.hp2
 intron_variant MODIFIER c.10157-7138C>G
c.10157-7138C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51667107
chr6:51667187 G
G
 C
C
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-7218C>G
c.10157-7218C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51667187
chr6:51667447 C
C
 A
A
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-7478G>T
c.10157-7478G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51667447
chr6:51667585 A
A
 G
G
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.10157-7616T>C
c.10157-7616T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51667585
chr6:51667787 A
A
 G
G
 24 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(21): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 24 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(21): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-7818T>C
c.10157-7818T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51667787
chr6:51667861 C
C
 T
T
 21 a0002c0004t0004g0115
a0002c0092t0004g0002
a0004c0014t0004g0033
others(18): Show 
a0002c0004t0004g0115
a0002c0092t0004g0002
a0004c0014t0004g0033
a0004c0047t0019g0015
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
 21 HG00423.hp1
HG00741.hp1
HG01175.hp1
others(18): Show 
HG00423.hp1
HG00741.hp1
HG01175.hp1
HG02015.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03471.hp2
HG03540.hp1
NA19003.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-7892G>A
c.10157-7892G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51667861
chr6:51667862 G
G
 A
A
 1 a0017c0089t0002g0116
a0017c0089t0002g0116
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.10157-7893C>T
c.10157-7893C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51667862
chr6:51668027 A
A
 G
G
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0009c0054t0001g0082
a0009c0087t0001g0111
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 27 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-8058T>C
c.10157-8058T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668027
chr6:51668055 T
T
 C
C
 1 a0007c0003t0001g0011
a0007c0003t0001g0011
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.10157-8086A>G
c.10157-8086A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668055
chr6:51668214 T
T
 G
G
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-8245A>C
c.10157-8245A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668214
chr6:51668220 A
A
 C
C
 44 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(41): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
 44 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(41): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-8251T>G
c.10157-8251T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668220
chr6:51668483 G
G
 A
A
 11 a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
others(8): Show 
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0004c0006t0002g0055
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0040c0081t0001g0124
 11 HG01071.hp2
HG01243.hp2
HG01255.hp2
others(8): Show 
HG01071.hp2
HG01243.hp2
HG01255.hp2
HG02818.hp1
HG03239.hp2
HG03516.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19005.hp1
 intron_variant MODIFIER c.10157-8514C>T
c.10157-8514C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668483
chr6:51668568 A
A
 G
G
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-8599T>C
c.10157-8599T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668568
chr6:51668757 T
T
 G
G
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.10157-8788A>C
c.10157-8788A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668757
chr6:51668779 C
C
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10157-8810G>T
c.10157-8810G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668779
chr6:51668806 T
T
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.10157-8837A>G
c.10157-8837A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668806
chr6:51668810 G
G
 A
A
 4 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(1): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 4 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(1): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19090.hp1
 intron_variant MODIFIER c.10157-8841C>T
c.10157-8841C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668810
chr6:51668866 T
T
 A
A
 12 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 12 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-8897A>T
c.10157-8897A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51668866
chr6:51669166 C
C
 T
T
 23 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(20): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0005c0038t0001g0034
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
 23 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(20): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01952.hp1
HG02040.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18964.hp1
NA18975.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-9197G>A
c.10157-9197G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669166
chr6:51669167 A
A
 G
G
 23 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(20): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0005c0038t0001g0034
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
 23 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(20): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01952.hp1
HG02040.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18964.hp1
NA18975.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-9198T>C
c.10157-9198T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669167
chr6:51669168 T
T
 C
C
 23 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(20): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0005c0038t0001g0034
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
 23 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(20): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01952.hp1
HG02040.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18964.hp1
NA18975.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-9199A>G
c.10157-9199A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669168
chr6:51669188 G
G
 C
C
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0009c0054t0001g0082
a0009c0087t0001g0111
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 27 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-9219C>G
c.10157-9219C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669188
chr6:51669269 T
T
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.10157-9300A>T
c.10157-9300A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669269
chr6:51669360 G
G
 T
T
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.10157-9391C>A
c.10157-9391C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669360
chr6:51669361 T
T
 A
A
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.10157-9392A>T
c.10157-9392A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669361
chr6:51669362 A
A
 G
G
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.10157-9393T>C
c.10157-9393T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669362
chr6:51669396 C
C
 A
A
 12 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 12 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-9427G>T
c.10157-9427G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669396
chr6:51669450 A
A
 G
G
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.10157-9481T>C
c.10157-9481T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669450
chr6:51669553 C
C
 T
T
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.10157-9584G>A
c.10157-9584G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669553
chr6:51669563 T
T
 C
C
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.10157-9594A>G
c.10157-9594A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669563
chr6:51669622 C
C
 A
A
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 66 HG00741.hp1
HG00741.hp2
HG01071.hp1
others(63): Show 
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-9653G>T
c.10157-9653G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669622
chr6:51669721 A
A
 T
T
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.10157-9752T>A
c.10157-9752T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669721
chr6:51669801 C
C
 T
T
 93 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(90): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 93 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(90): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-9832G>A
c.10157-9832G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669801
chr6:51669844 T
T
 G
G
 2 a0002c0065t0007g0068
a0002c0091t0007g0133
a0002c0065t0007g0068
a0002c0091t0007g0133
 2 HG03453.hp2
HG03540.hp2
HG03453.hp2
HG03540.hp2
 intron_variant MODIFIER c.10157-9875A>C
c.10157-9875A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669844
chr6:51669892 T
T
 C
C
 17 a0004c0047t0019g0015
a0005c0039t0001g0030
a0006c0011t0005g0063
others(14): Show 
a0004c0047t0019g0015
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
 17 HG00741.hp1
HG01175.hp1
HG02257.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03139.hp2
HG03471.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-9923A>G
c.10157-9923A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51669892
chr6:51670057 C
C
 T
T
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-10088G>A
c.10157-10088G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670057
chr6:51670064 T
T
 C
C
 130 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(127): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 130 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(127): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-10095A>G
c.10157-10095A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670064
chr6:51670065 G
G
 A
A
 76 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(73): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0040c0081t0001g0124
a0044c0075t0001g0119
a0048c0023t0017g0081
 76 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(73): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-10096C>T
c.10157-10096C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670065
chr6:51670078 C
C
 T
T
 1 a0001c0093t0001g0127
a0001c0093t0001g0127
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.10157-10109G>A
c.10157-10109G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670078
chr6:51670106 G
G
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-10137C>T
c.10157-10137C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670106
chr6:51670134 G
G
 A
A
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.10157-10165C>T
c.10157-10165C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670134
chr6:51670144 G
G
 C
C
 49 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(46): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0035c0086t0001g0109
a0038c0062t0002g0065
a0044c0075t0001g0119
a0048c0023t0017g0081
 49 HG00741.hp2
HG01071.hp1
HG01106.hp1
others(46): Show 
HG00741.hp2
HG01071.hp1
HG01106.hp1
HG01175.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-10175C>G
c.10157-10175C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670144
chr6:51670211 C
C
 T
T
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.10157-10242G>A
c.10157-10242G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670211
chr6:51670227 G
G
 A
A
 3 a0002c0005t0004g0076
a0002c0021t0004g0128
a0004c0014t0004g0024
a0002c0005t0004g0076
a0002c0021t0004g0128
a0004c0014t0004g0024
 3 HG00738.hp1
HG01081.hp1
HG04228.hp2
HG00738.hp1
HG01081.hp1
HG04228.hp2
 intron_variant MODIFIER c.10157-10258C>T
c.10157-10258C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670227
chr6:51670239 G
G
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10157-10270C>T
c.10157-10270C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670239
chr6:51670264 G
G
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-10295C>T
c.10157-10295C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670264
chr6:51670284 C
C
 T
T
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.10157-10315G>A
c.10157-10315G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670284
chr6:51670286 G
G
 C
C
 2 a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0080
a0037c0060t0005g0022
 2 HG02922.hp1
HG03540.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.10157-10317C>G
c.10157-10317C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670286
chr6:51670295 T
T
 C
C
 2 a0001c0061t0001g0064
a0003c0048t0001g0047
a0001c0061t0001g0064
a0003c0048t0001g0047
 2 HG02486.hp2
HG03453.hp1
HG02486.hp2
HG03453.hp1
 intron_variant MODIFIER c.10157-10326A>G
c.10157-10326A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670295
chr6:51670312 C
C
 T
T
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10157-10343G>A
c.10157-10343G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670312
chr6:51670448 C
C
 T
T
 76 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(73): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0040c0081t0001g0124
a0044c0075t0001g0119
a0048c0023t0017g0081
 76 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(73): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-10479G>A
c.10157-10479G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670448
chr6:51670462 C
C
 T
T
 76 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(73): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0040c0081t0001g0124
a0044c0075t0001g0119
a0048c0023t0017g0081
 76 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(73): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-10493G>A
c.10157-10493G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670462
chr6:51670586 C
C
 T
T
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.10157-10617G>A
c.10157-10617G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670586
chr6:51670615 G
G
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-10646C>T
c.10157-10646C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670615
chr6:51670643 C
C
 T
T
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-10674G>A
c.10157-10674G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670643
chr6:51670676 A
A
 C
C
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-10707T>G
c.10157-10707T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670676
chr6:51670737 G
G
 A
A
 4 a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
others(1): Show 
a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
a0045c0084t0006g0087
 4 HG01074.hp2
HG01433.hp1
HG02280.hp1
others(1): Show 
HG01074.hp2
HG01433.hp1
HG02280.hp1
HG03041.hp1
 intron_variant MODIFIER c.10157-10768C>T
c.10157-10768C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670737
chr6:51670802 G
G
 T
T
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-10833C>A
c.10157-10833C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670802
chr6:51670824 T
T
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10157-10855A>T
c.10157-10855A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670824
chr6:51670953 A
A
 C
C
 54 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(51): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0010c0026t0001g0013
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 54 HG00423.hp2
HG00738.hp2
HG00741.hp1
others(51): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-10984T>G
c.10157-10984T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51670953
chr6:51671034 T
T
 G
G
 3 a0004c0006t0002g0055
a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0006t0002g0055
a0004c0047t0019g0015
a0008c0018t0020g0074
 3 HG02257.hp1
HG03098.hp1
HG03516.hp2
HG02257.hp1
HG03098.hp1
HG03516.hp2
 intron_variant MODIFIER c.10157-11065A>C
c.10157-11065A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671034
chr6:51671054 T
T
 C
C
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-11085A>G
c.10157-11085A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671054
chr6:51671071 G
G
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-11102C>A
c.10157-11102C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671071
chr6:51671074 C
C
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-11105G>A
c.10157-11105G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671074
chr6:51671081 C
C
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-11112G>A
c.10157-11112G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671081
chr6:51671154 G
G
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-11185C>T
c.10157-11185C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671154
chr6:51671184 C
C
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-11215G>T
c.10157-11215G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671184
chr6:51671243 G
G
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-11274C>T
c.10157-11274C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671243
chr6:51671263 C
C
 G
G
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0009c0054t0001g0082
a0009c0087t0001g0111
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 27 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-11294G>C
c.10157-11294G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671263
chr6:51671275 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.10157-11306G>A
c.10157-11306G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671275
chr6:51671310 A
A
 G
G
 11 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(8): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
 11 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-11341T>C
c.10157-11341T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671310
chr6:51671321 G
G
 A
A
 3 a0002c0020t0008g0110
a0009c0054t0001g0082
a0009c0087t0001g0111
a0002c0020t0008g0110
a0009c0054t0001g0082
a0009c0087t0001g0111
 3 HG01243.hp1
HG02976.hp2
HG03471.hp1
HG01243.hp1
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.10157-11352C>T
c.10157-11352C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671321
chr6:51671352 G
G
 C
C
 130 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(127): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 130 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(127): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-11383C>G
c.10157-11383C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671352
chr6:51671523 C
C
 T
T
 3 a0027c0069t0018g0092
a0038c0062t0002g0065
a0048c0023t0017g0081
a0027c0069t0018g0092
a0038c0062t0002g0065
a0048c0023t0017g0081
 3 HG02622.hp1
HG02897.hp2
HG03041.hp2
HG02622.hp1
HG02897.hp2
HG03041.hp2
 intron_variant MODIFIER c.10157-11554G>A
c.10157-11554G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671523
chr6:51671652 C
C
 T
T
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-11683G>A
c.10157-11683G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671652
chr6:51671870 G
G
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-11901C>T
c.10157-11901C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51671870
chr6:51672186 G
G
 A
A
 1 a0003c0041t0001g0046
a0003c0041t0001g0046
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.10157-12217C>T
c.10157-12217C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672186
chr6:51672194 G
G
 A
A
 37 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(34): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0041c0088t0006g0114
a0045c0084t0006g0087
a0046c0067t0003g0112
 37 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(34): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-12225C>T
c.10157-12225C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672194
chr6:51672269 C
C
 T
T
 93 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(90): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 93 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(90): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-12300G>A
c.10157-12300G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672269
chr6:51672483 C
C
 G
G
 93 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(90): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 93 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(90): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-12514G>C
c.10157-12514G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672483
chr6:51672553 G
G
 A
A
 93 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(90): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 93 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(90): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-12584C>T
c.10157-12584C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672553
chr6:51672637 G
G
 T
T
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.10157-12668C>A
c.10157-12668C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672637
chr6:51672774 A
A
 G
G
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.10157-12805T>C
c.10157-12805T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672774
chr6:51672860 A
A
 C
C
 9 a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
others(6): Show 
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0040c0081t0001g0124
 9 HG01071.hp2
HG01243.hp2
HG01255.hp2
others(6): Show 
HG01071.hp2
HG01243.hp2
HG01255.hp2
HG03239.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19005.hp1
 intron_variant MODIFIER c.10157-12891T>G
c.10157-12891T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672860
chr6:51672922 A
A
 G
G
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.10157-12953T>C
c.10157-12953T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51672922
chr6:51673024 C
C
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-13055G>A
c.10157-13055G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51673024
chr6:51673157 T
T
 A
A
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
 3 HG02257.hp2
HG02717.hp2
HG03225.hp1
HG02257.hp2
HG02717.hp2
HG03225.hp1
 intron_variant MODIFIER c.10157-13188A>T
c.10157-13188A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51673157
chr6:51673183 C
C
 T
T
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.10157-13214G>A
c.10157-13214G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51673183
chr6:51673273 G
G
 C
C
 88 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(85): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 88 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(85): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-13304C>G
c.10157-13304C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51673273
chr6:51673327 T
T
 C
C
 12 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(9): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
a0047c0051t0004g0056
 12 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(9): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-13358A>G
c.10157-13358A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51673327
chr6:51673579 G
G
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-13610C>T
c.10157-13610C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51673579
chr6:51673703 G
G
 A
A
 24 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(21): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
 24 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(21): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-13734C>T
c.10157-13734C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51673703
chr6:51674015 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.10157-14046C>T
c.10157-14046C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674015
chr6:51674279 C
C
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-14310G>T
c.10157-14310G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674279
chr6:51674413 C
C
 T
T
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.10157-14444G>A
c.10157-14444G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674413
chr6:51674640 A
A
 G
G
 2 a0002c0005t0002g0021
a0004c0006t0002g0048
a0002c0005t0002g0021
a0004c0006t0002g0048
 2 HG02055.hp1
HG03486.hp2
HG02055.hp1
HG03486.hp2
 intron_variant MODIFIER c.10157-14671T>C
c.10157-14671T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674640
chr6:51674718 C
C
 A
A
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-14749G>T
c.10157-14749G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674718
chr6:51674718 C
C
 G
G
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-14749G>C
c.10157-14749G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674718
chr6:51674751 C
C
 A
A
 2 a0004c0006t0002g0055
a0030c0055t0002g0072
a0004c0006t0002g0055
a0030c0055t0002g0072
 2 HG02818.hp1
HG03516.hp2
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.10157-14782G>T
c.10157-14782G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674751
chr6:51674904 G
G
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-14935C>T
c.10157-14935C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674904
chr6:51674956 T
T
 A
A
 5 a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
others(2): Show 
a0004c0047t0019g0015
a0008c0018t0020g0074
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 5 HG01175.hp1
HG02257.hp1
HG02970.hp1
others(2): Show 
HG01175.hp1
HG02257.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-14987A>T
c.10157-14987A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51674956
chr6:51675119 G
G
 A
A
 9 a0001c0001t0001g0060
a0001c0009t0001g0103
a0001c0010t0001g0077
others(6): Show 
a0001c0001t0001g0060
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0003c0013t0001g0054
a0032c0058t0001g0070
 9 HG02622.hp2
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02622.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03516.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.10157-15150C>T
c.10157-15150C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51675119
chr6:51675264 T
T
 A
A
 4 a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
others(1): Show 
a0001c0093t0001g0127
a0005c0040t0001g0029
a0041c0088t0006g0114
a0045c0084t0006g0087
 4 HG01074.hp2
HG01433.hp1
HG02280.hp1
others(1): Show 
HG01074.hp2
HG01433.hp1
HG02280.hp1
HG03041.hp1
 intron_variant MODIFIER c.10157-15295A>T
c.10157-15295A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51675264
chr6:51675324 C
C
 T
T
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-15355G>A
c.10157-15355G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51675324
chr6:51675387 C
C
 T
T
 28 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(25): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0008c0053t0016g0069
a0009c0054t0001g0082
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0040c0081t0001g0124
a0041c0088t0006g0114
 28 HG00423.hp1
HG00738.hp1
HG01071.hp2
others(25): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.10157-15418G>A
c.10157-15418G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51675387
chr6:51675759 G
G
 C
C
 1 a0001c0032t0001g0075
a0001c0032t0001g0075
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.10157-15790C>G
c.10157-15790C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51675759
chr6:51676252 G
G
 GA
GA
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-16284dupT
c.10157-16284dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51676252
chr6:51676332 A
A
 G
G
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-16363T>C
c.10157-16363T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51676332
chr6:51676468 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-16499A>G
c.10157-16499A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51676468
chr6:51676585 G
G
 T
T
 93 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(90): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 93 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(90): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-16616C>A
c.10157-16616C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51676585
chr6:51676600 ACCT
ACCT
 A
A
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-16634_10157-
others(11): Show 
c.10157-16634_10157-16632delAGG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51676600
chr6:51676601 C
C
 A
A
 7 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(4): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 7 HG00741.hp1
HG02486.hp1
HG02717.hp1
others(4): Show 
HG00741.hp1
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-16632G>T
c.10157-16632G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51676601
chr6:51676792 G
G
 A
A
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-16823C>T
c.10157-16823C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51676792
chr6:51677214 G
G
 C
C
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.10157-17245C>G
c.10157-17245C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51677214
chr6:51677269 C
C
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.10157-17300G>A
c.10157-17300G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51677269
chr6:51677361 T
T
 C
C
 47 a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
others(44): Show 
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0047c0051t0004g0056
 47 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(44): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.10157-17392A>G
c.10157-17392A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51677361
chr6:51677687 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.10157-17718G>A
c.10157-17718G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51677687
chr6:51677754 A
A
 T
T
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.10157-17785T>A
c.10157-17785T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51677754
chr6:51677778 A
A
 C
C
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.10157-17809T>G
c.10157-17809T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51677778
chr6:51677826 C
C
 T
T
 1 a0017c0089t0002g0116
a0017c0089t0002g0116
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.10157-17857G>A
c.10157-17857G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51677826
chr6:51678079 T
T
 C
C
 9 a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
others(6): Show 
a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0036c0074t0003g0108
a0039c0066t0003g0098
a0046c0067t0003g0112
 9 HG01074.hp1
HG01106.hp2
HG01496.hp2
others(6): Show 
HG01074.hp1
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.10157-18110A>G
c.10157-18110A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51678079
chr6:51678206 A
A
 G
G
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.10157-18237T>C
c.10157-18237T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51678206
chr6:51678788 C
C
 A
A
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-18819G>T
c.10157-18819G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51678788
chr6:51678864 C
C
 T
T
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.10157-18895G>A
c.10157-18895G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51678864
chr6:51679114 G
G
 A
A
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.10157-19145C>T
c.10157-19145C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51679114
chr6:51679133 T
T
 C
C
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-19164A>G
c.10157-19164A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51679133
chr6:51679149 T
T
 A
A
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.10157-19180A>T
c.10157-19180A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51679149
chr6:51679296 T
T
 A
A
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.10157-19327A>T
c.10157-19327A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51679296
chr6:51679472 G
G
 A
A
 3 a0002c0004t0003g0085
a0002c0020t0003g0084
a0004c0008t0011g0026
a0002c0004t0003g0085
a0002c0020t0003g0084
a0004c0008t0011g0026
 3 HG02155.hp2
NA18964.hp2
NA18989.hp2
HG02155.hp2
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.10157-19503C>T
c.10157-19503C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51679472
chr6:51679562 T
T
 G
G
 46 a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
others(43): Show 
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
 46 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(43): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.10157-19593A>C
c.10157-19593A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51679562
chr6:51679815 G
G
 C
C
 46 a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
others(43): Show 
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
 46 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(43): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.10157-19846C>G
c.10157-19846C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51679815
chr6:51680018 A
A
 T
T
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.10157-20049T>A
c.10157-20049T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51680018
chr6:51680294 C
C
 T
T
 41 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(38): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0038c0062t0002g0065
a0044c0075t0001g0119
a0048c0023t0017g0081
 41 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(38): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-20325G>A
c.10157-20325G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51680294
chr6:51680574 C
C
 T
T
 4 a0008c0053t0016g0069
a0029c0070t0008g0090
a0033c0059t0008g0001
others(1): Show 
a0008c0053t0016g0069
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 4 HG01175.hp1
HG02965.hp2
HG02970.hp1
others(1): Show 
HG01175.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-20605G>A
c.10157-20605G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51680574
chr6:51680947 T
T
 C
C
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.10157-20978A>G
c.10157-20978A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51680947
chr6:51680962 C
C
 G
G
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-20993G>C
c.10157-20993G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51680962
chr6:51681325 G
G
 C
C
 46 a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
others(43): Show 
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
 46 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(43): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.10157-21356C>G
c.10157-21356C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51681325
chr6:51681348 G
G
 A
A
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-21379C>T
c.10157-21379C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51681348
chr6:51682120 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-22151A>G
c.10157-22151A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51682120
chr6:51682129 T
T
 C
C
 11 a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
others(8): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
 11 HG00741.hp1
HG02280.hp2
HG02486.hp1
others(8): Show 
HG00741.hp1
HG02280.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03540.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-22160A>G
c.10157-22160A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51682129
chr6:51682168 G
G
 A
A
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.10157-22199C>T
c.10157-22199C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51682168
chr6:51682236 C
C
 T
T
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.10157-22267G>A
c.10157-22267G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51682236
chr6:51682771 G
G
 A
A
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-22802C>T
c.10157-22802C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51682771
chr6:51682822 T
T
 C
C
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.10157-22853A>G
c.10157-22853A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51682822
chr6:51682865 C
C
 G
G
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-22896G>C
c.10157-22896G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51682865
chr6:51683264 A
A
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-23295T>G
c.10157-23295T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51683264
chr6:51683479 T
T
 A
A
 1 a0003c0007t0001g0037
a0003c0007t0001g0037
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.10157-23510A>T
c.10157-23510A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51683479
chr6:51683683 G
G
 A
A
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0038c0062t0002g0065
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 42 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(39): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-23714C>T
c.10157-23714C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51683683
chr6:51683856 GAC
GAC
 G
G
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0038c0062t0002g0065
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 42 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(39): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-23889_10157-
others(10): Show 
c.10157-23889_10157-23888delGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51683856
chr6:51684001 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-24032A>G
c.10157-24032A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51684001
chr6:51684121 A
A
 G
G
 7 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(4): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 7 HG00741.hp1
HG02486.hp1
HG02717.hp1
others(4): Show 
HG00741.hp1
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-24152T>C
c.10157-24152T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51684121
chr6:51684203 T
T
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.10157-24234A>G
c.10157-24234A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51684203
chr6:51684289 T
T
 C
C
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-24320A>G
c.10157-24320A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51684289
chr6:51684643 A
A
 G
G
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-24674T>C
c.10157-24674T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51684643
chr6:51684837 A
A
 T
T
 4 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
others(1): Show 
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
 4 HG01255.hp1
HG03453.hp2
HG03471.hp1
others(1): Show 
HG01255.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.10157-24868T>A
c.10157-24868T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51684837
chr6:51684852 T
T
 C
C
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.10157-24883A>G
c.10157-24883A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51684852
chr6:51685102 A
A
 G
G
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.10157-25133T>C
c.10157-25133T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51685102
chr6:51685114 G
G
 A
A
 3 a0001c0093t0001g0127
a0005c0040t0001g0029
a0045c0084t0006g0087
a0001c0093t0001g0127
a0005c0040t0001g0029
a0045c0084t0006g0087
 3 HG01074.hp2
HG01433.hp1
HG03041.hp1
HG01074.hp2
HG01433.hp1
HG03041.hp1
 intron_variant MODIFIER c.10157-25145C>T
c.10157-25145C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51685114
chr6:51685320 G
G
 A
A
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-25351C>T
c.10157-25351C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51685320
chr6:51685427 C
C
 T
T
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0038c0062t0002g0065
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 42 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(39): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-25458G>A
c.10157-25458G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51685427
chr6:51685919 G
G
 A
A
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-25950C>T
c.10157-25950C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51685919
chr6:51686190 C
C
 T
T
 114 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(111): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 114 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(111): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-26221G>A
c.10157-26221G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51686190
chr6:51686548 T
T
 C
C
 129 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(126): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 129 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(126): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-26579A>G
c.10157-26579A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51686548
chr6:51686591 A
A
 G
G
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.10157-26622T>C
c.10157-26622T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51686591
chr6:51686901 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-26932A>G
c.10157-26932A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51686901
chr6:51687196 G
G
 A
A
 1 a0007c0003t0001g0011
a0007c0003t0001g0011
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.10157-27227C>T
c.10157-27227C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51687196
chr6:51687288 G
G
 GA
GA
 18 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(15): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0041t0001g0046
a0004c0008t0004g0045
a0004c0043t0015g0057
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0044c0075t0001g0119
 18 HG01071.hp1
HG01071.hp2
HG02015.hp2
others(15): Show 
HG01071.hp1
HG01071.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG03669.hp1
HG04184.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-27320dupT
c.10157-27320dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51687288
chr6:51687470 C
C
 T
T
 2 a0002c0005t0002g0021
a0004c0006t0002g0048
a0002c0005t0002g0021
a0004c0006t0002g0048
 2 HG02055.hp1
HG03486.hp2
HG02055.hp1
HG03486.hp2
 intron_variant MODIFIER c.10157-27501G>A
c.10157-27501G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51687470
chr6:51687504 T
T
 C
C
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-27535A>G
c.10157-27535A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51687504
chr6:51687688 G
G
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.10157-27719C>A
c.10157-27719C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51687688
chr6:51687905 TACTC
TACTC
 T
T
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-27940_10157-
others(12): Show 
c.10157-27940_10157-27937delGAGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51687905
chr6:51688454 C
C
 T
T
 3 a0001c0093t0001g0127
a0005c0040t0001g0029
a0045c0084t0006g0087
a0001c0093t0001g0127
a0005c0040t0001g0029
a0045c0084t0006g0087
 3 HG01074.hp2
HG01433.hp1
HG03041.hp1
HG01074.hp2
HG01433.hp1
HG03041.hp1
 intron_variant MODIFIER c.10157-28485G>A
c.10157-28485G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51688454
chr6:51688512 A
A
 C
C
 15 a0002c0004t0003g0126
a0002c0020t0008g0110
a0002c0065t0007g0068
others(12): Show 
a0002c0004t0003g0126
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 15 HG00741.hp1
HG01255.hp1
HG02486.hp1
others(12): Show 
HG00741.hp1
HG01255.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-28543T>G
c.10157-28543T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51688512
chr6:51688604 G
G
 C
C
 7 a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
others(4): Show 
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 7 HG00741.hp1
HG02486.hp1
HG02717.hp1
others(4): Show 
HG00741.hp1
HG02486.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-28635C>G
c.10157-28635C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51688604
chr6:51688845 G
G
 A
A
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-28876C>T
c.10157-28876C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51688845
chr6:51689518 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-29549A>G
c.10157-29549A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51689518
chr6:51689679 C
C
 G
G
 4 a0008c0053t0016g0069
a0029c0070t0008g0090
a0033c0059t0008g0001
others(1): Show 
a0008c0053t0016g0069
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 4 HG01175.hp1
HG02965.hp2
HG02970.hp1
others(1): Show 
HG01175.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-29710G>C
c.10157-29710G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51689679
chr6:51690049 G
G
 A
A
 23 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(20): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0005c0038t0001g0034
a0009c0087t0001g0111
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
 23 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(20): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01952.hp1
HG02040.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18964.hp1
NA18975.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-30080C>T
c.10157-30080C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690049
chr6:51690248 G
G
 A
A
 4 a0008c0053t0016g0069
a0029c0070t0008g0090
a0033c0059t0008g0001
others(1): Show 
a0008c0053t0016g0069
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 4 HG01175.hp1
HG02965.hp2
HG02970.hp1
others(1): Show 
HG01175.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-30279C>T
c.10157-30279C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690248
chr6:51690271 CA
CA
 C
C
 11 a0002c0004t0003g0126
a0002c0020t0008g0110
a0002c0065t0007g0068
others(8): Show 
a0002c0004t0003g0126
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0016t0001g0027
a0004c0006t0002g0055
a0009c0054t0001g0082
a0010c0028t0001g0009
a0040c0081t0001g0124
a0041c0088t0006g0114
 11 HG01255.hp1
HG02280.hp1
HG02698.hp2
others(8): Show 
HG01255.hp1
HG02280.hp1
HG02698.hp2
HG02976.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
NA18971.hp1
NA20129.hp2
 intron_variant MODIFIER c.10157-30303delT
c.10157-30303delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690271
chr6:51690271 CAA
CAA
 C
C
 26 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(23): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0008c0053t0016g0069
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0029c0070t0008g0090
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0042c0035t0006g0059
 26 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(23): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02683.hp1
HG02965.hp2
HG02970.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG04228.hp2
NA18747.hp2
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-30304_10157-
others(10): Show 
c.10157-30304_10157-30303delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690271
chr6:51690271 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 38 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(35): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0087t0001g0111
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0045c0084t0006g0087
a0046c0067t0003g0112
 38 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(35): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02155.hp2
HG02257.hp1
HG02451.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10157-30314_10157-
others(20): Show 
c.10157-30314_10157-30303delTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690271
chr6:51690271 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 C
C
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0038c0062t0002g0065
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 42 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(39): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-30317_10157-
others(23): Show 
c.10157-30317_10157-30303delTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690271
chr6:51690312 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.10157-30343T>C
c.10157-30343T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690312
chr6:51690346 A
A
 T
T
 1 a0024c0068t0001g0091
a0024c0068t0001g0091
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.10157-30377T>A
c.10157-30377T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690346
chr6:51690392 T
T
 C
C
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-30423A>G
c.10157-30423A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690392
chr6:51690443 A
A
 G
G
 4 a0002c0004t0003g0126
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0002c0004t0003g0126
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0064t0003g0053
 4 HG02698.hp2
HG03239.hp1
HG03669.hp2
others(1): Show 
HG02698.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp2
 intron_variant MODIFIER c.10157-30474T>C
c.10157-30474T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690443
chr6:51690446 A
A
 G
G
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.10157-30477T>C
c.10157-30477T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690446
chr6:51690582 A
A
 G
G
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.10157-30613T>C
c.10157-30613T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690582
chr6:51690612 C
C
 T
T
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-30643G>A
c.10157-30643G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690612
chr6:51690817 G
G
 T
T
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.10157-30848C>A
c.10157-30848C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51690817
chr6:51691178 GA
GA
 G
G
 87 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(84): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0005t0002g0018
a0002c0020t0003g0084
a0002c0021t0004g0130
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0030t0001g0007
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 87 HG00423.hp2
HG00738.hp2
HG01071.hp1
others(84): Show 
HG00423.hp2
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-31210delT
c.10157-31210delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691178
chr6:51691195 T
T
 C
C
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.10157-31226A>G
c.10157-31226A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691195
chr6:51691308 T
T
 C
C
 8 a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
others(5): Show 
a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0036c0074t0003g0108
a0046c0067t0003g0112
 8 HG01074.hp1
HG01106.hp2
HG01496.hp2
others(5): Show 
HG01074.hp1
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG04204.hp2
HG04228.hp1
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.10157-31339A>G
c.10157-31339A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691308
chr6:51691612 A
A
 C
C
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.10157-31643T>G
c.10157-31643T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691612
chr6:51691723 G
G
 A
A
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-31754C>T
c.10157-31754C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691723
chr6:51691757 A
A
 T
T
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.10157-31788T>A
c.10157-31788T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691757
chr6:51691827 C
C
 T
T
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-31858G>A
c.10157-31858G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691827
chr6:51691828 G
G
 T
T
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.10157-31859C>A
c.10157-31859C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691828
chr6:51691977 A
A
 G
G
 3 a0001c0022t0001g0129
a0003c0015t0001g0039
a0003c0041t0001g0046
a0001c0022t0001g0129
a0003c0015t0001g0039
a0003c0041t0001g0046
 3 HG01071.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
HG01071.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-32008T>C
c.10157-32008T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51691977
chr6:51692228 A
A
 G
G
 1 a0003c0016t0001g0028
a0003c0016t0001g0028
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.10157-32259T>C
c.10157-32259T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692228
chr6:51692244 G
G
 T
T
 1 a0003c0016t0001g0028
a0003c0016t0001g0028
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.10157-32275C>A
c.10157-32275C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692244
chr6:51692261 T
T
 TCA
TCA
 4 a0014c0024t0001g0004
a0028c0071t0012g0093
a0031c0057t0013g0067
others(1): Show 
a0014c0024t0001g0004
a0028c0071t0012g0093
a0031c0057t0013g0067
a0035c0086t0001g0109
 4 HG00741.hp1
HG01952.hp2
HG02896.hp1
others(1): Show 
HG00741.hp1
HG01952.hp2
HG02896.hp1
HG03669.hp1
 intron_variant MODIFIER c.10157-32294_10157-
others(10): Show 
c.10157-32294_10157-32293dupTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692261 T
T
 TCACA
TCACA
 13 a0001c0001t0001g0060
a0001c0009t0001g0103
a0001c0010t0001g0077
others(10): Show 
a0001c0001t0001g0060
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0036t0001g0042
a0008c0053t0016g0069
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
 13 HG00423.hp2
HG01175.hp1
HG01496.hp1
others(10): Show 
HG00423.hp2
HG01175.hp1
HG01496.hp1
HG02622.hp2
HG02809.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03471.hp2
HG03516.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.10157-32296_10157-
others(12): Show 
c.10157-32296_10157-32293dupTGTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692261 T
T
 TCACACA
TCACACA
 51 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(48): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0010t0001g0078
a0001c0034t0001g0016
a0001c0061t0001g0064
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
a0030c0055t0002g0072
a0034c0085t0004g0096
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 51 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(48): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG02015.hp1
HG02040.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02818.hp1
HG02897.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.10157-32298_10157-
others(14): Show 
c.10157-32298_10157-32293dupTGTGTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692261 T
T
 TCACACAC
others(1): Show 
TCACACACA
 38 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(35): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0015t0001g0039
a0004c0006t0002g0048
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0005c0037t0001g0038
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 38 HG00738.hp2
HG01071.hp1
HG01074.hp1
others(35): Show 
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02683.hp2
HG02970.hp1
HG03041.hp1
HG03225.hp2
HG03486.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-32300_10157-
others(16): Show 
c.10157-32300_10157-32293dupTGTGTGTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692261 T
T
 TCACACAC
others(3): Show 
TCACACACACA
 3 a0013c0095t0014g0122
a0021c0045t0001g0036
a0047c0051t0004g0056
a0013c0095t0014g0122
a0021c0045t0001g0036
a0047c0051t0004g0056
 3 HG01433.hp2
HG03139.hp2
HG03704.hp1
HG01433.hp2
HG03139.hp2
HG03704.hp1
 intron_variant MODIFIER c.10157-32302_10157-
others(18): Show 
c.10157-32302_10157-32293dupTGTGTGTGTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692261 T
T
 TCACACAC
others(5): Show 
TCACACACACACA
 4 a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0005t0002g0018
others(1): Show 
a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0005t0002g0018
a0012c0029t0002g0010
 4 HG02055.hp2
HG02896.hp2
HG02897.hp1
others(1): Show 
HG02055.hp2
HG02896.hp2
HG02897.hp1
NA20752.hp1
 intron_variant MODIFIER c.10157-32304_10157-
others(20): Show 
c.10157-32304_10157-32293dupTGTGTGTGTGTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692261 T
T
 TCACACAC
others(7): Show 
TCACACACACACACA
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.10157-32306_10157-
others(22): Show 
c.10157-32306_10157-32293dupTGTGTGTGTGTGTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692261 TCA
TCA
 T
T
 4 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
others(1): Show 
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
 4 HG01255.hp1
HG03453.hp2
HG03471.hp1
others(1): Show 
HG01255.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.10157-32294_10157-
others(10): Show 
c.10157-32294_10157-32293delTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692261
chr6:51692289 A
A
 ACACACAC
others(3): Show 
ACACACACACC
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-32321_10157-
others(18): Show 
c.10157-32321_10157-32320insGGTGTGTGTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692289
chr6:51692595 C
C
 T
T
 2 a0029c0070t0008g0090
a0033c0059t0008g0001
a0029c0070t0008g0090
a0033c0059t0008g0001
 2 HG01175.hp1
HG03471.hp2
HG01175.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-32626G>A
c.10157-32626G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692595
chr6:51692759 G
G
 A
A
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-32790C>T
c.10157-32790C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692759
chr6:51692969 C
C
 T
T
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.10157-33000G>A
c.10157-33000G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51692969
chr6:51693054 C
C
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-33085G>A
c.10157-33085G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51693054
chr6:51693378 G
G
 T
T
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-33409C>A
c.10157-33409C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51693378
chr6:51693402 A
A
 G
G
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.10157-33433T>C
c.10157-33433T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51693402
chr6:51693491 G
G
 A
A
 9 a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
others(6): Show 
a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0036c0074t0003g0108
a0039c0066t0003g0098
a0046c0067t0003g0112
 9 HG01074.hp1
HG01106.hp2
HG01496.hp2
others(6): Show 
HG01074.hp1
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp2
NA18989.hp2
 intron_variant MODIFIER c.10157-33522C>T
c.10157-33522C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51693491
chr6:51693624 C
C
 G
G
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-33655G>C
c.10157-33655G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51693624
chr6:51693773 C
C
 G
G
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.10157-33804G>C
c.10157-33804G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51693773
chr6:51694150 T
T
 A
A
 38 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(35): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0032c0058t0001g0070
a0044c0075t0001g0119
 38 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(35): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-34181A>T
c.10157-34181A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694150
chr6:51694234 T
T
 G
G
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0004g0045
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0038c0062t0002g0065
a0044c0075t0001g0119
a0047c0051t0004g0056
a0048c0023t0017g0081
 42 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(39): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-34265A>C
c.10157-34265A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694234
chr6:51694246 T
T
 C
C
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.10157-34277A>G
c.10157-34277A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694246
chr6:51694421 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.10157-34452A>G
c.10157-34452A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694421
chr6:51694445 G
G
 A
A
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0132
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0132
a0001c0034t0001g0016
a0003c0013t0001g0052
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0044c0075t0001g0119
 12 HG02015.hp2
HG02040.hp1
HG03669.hp1
others(9): Show 
HG02015.hp2
HG02040.hp1
HG03669.hp1
HG04184.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.10157-34476C>T
c.10157-34476C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694445
chr6:51694548 C
C
 CT
CT
 34 a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
others(31): Show 
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0118
a0001c0061t0001g0064
a0002c0004t0003g0085
a0002c0031t0003g0014
a0002c0065t0007g0068
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0005c0039t0001g0030
a0006c0011t0005g0063
a0009c0087t0001g0111
a0010c0026t0001g0013
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0033c0059t0008g0001
a0038c0062t0002g0065
a0039c0066t0003g0098
a0046c0067t0003g0112
a0047c0051t0004g0056
 34 HG00738.hp2
HG01074.hp1
HG01081.hp2
others(31): Show 
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG02015.hp2
HG02040.hp2
HG02155.hp2
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03704.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19007.hp1
 intron_variant MODIFIER c.10157-34580dupA
c.10157-34580dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694548
chr6:51694548 C
C
 CTT
CTT
 63 a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
others(60): Show 
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0012
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0023c0044t0001g0044
a0025c0072t0001g0095
a0029c0070t0008g0090
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 63 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(60): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03486.hp2
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.10157-34581_10157-
others(10): Show 
c.10157-34581_10157-34580dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694548
chr6:51694548 C
C
 CTTT
CTTT
 16 a0001c0001t0001g0019
a0001c0034t0001g0016
a0002c0004t0010g0101
others(13): Show 
a0001c0001t0001g0019
a0001c0034t0001g0016
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0021t0004g0130
a0002c0080t0002g0121
a0003c0007t0001g0043
a0003c0015t0001g0039
a0004c0006t0002g0055
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0011
a0009c0056t0001g0073
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
 16 HG00423.hp1
HG01071.hp2
HG01106.hp1
others(13): Show 
HG00423.hp1
HG01071.hp2
HG01106.hp1
HG01175.hp2
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02683.hp1
HG02818.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-34582_10157-
others(11): Show 
c.10157-34582_10157-34580dupAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694548
chr6:51694548 C
C
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-34579G>A
c.10157-34579G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694548
chr6:51694581 GACCAGGT
others(3): Show 
GACCAGGTTTC
 G
G
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.10157-34622_10157-
others(18): Show 
c.10157-34622_10157-34613delGAAACCTGGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694581
chr6:51694639 C
C
 T
T
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-34670G>A
c.10157-34670G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694639
chr6:51694948 TA
TA
 T
T
 126 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(123): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 126 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(123): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-34980delT
c.10157-34980delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51694948
chr6:51695238 A
A
 G
G
 2 a0001c0083t0001g0125
a0001c0094t0001g0131
a0001c0083t0001g0125
a0001c0094t0001g0131
 2 HG02809.hp1
NA20129.hp1
HG02809.hp1
NA20129.hp1
 intron_variant MODIFIER c.10157-35269T>C
c.10157-35269T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51695238
chr6:51695313 C
C
 T
T
 44 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(41): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0005t0002g0018
a0002c0020t0003g0084
a0002c0031t0003g0014
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0087t0001g0111
a0010c0026t0001g0013
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0029c0070t0008g0090
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0042c0035t0006g0059
a0045c0084t0006g0087
a0046c0067t0003g0112
 44 HG00423.hp2
HG00738.hp2
HG01074.hp1
others(41): Show 
HG00423.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02451.hp2
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA20752.hp1
 intron_variant MODIFIER c.10157-35344G>A
c.10157-35344G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51695313
chr6:51695621 A
A
 T
T
 114 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(111): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 114 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(111): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-35652T>A
c.10157-35652T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51695621
chr6:51696147 T
T
 C
C
 2 a0004c0047t0019g0015
a0008c0018t0020g0074
a0004c0047t0019g0015
a0008c0018t0020g0074
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.10157-36178A>G
c.10157-36178A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51696147
chr6:51696400 C
C
 T
T
 27 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(24): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 27 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-36431G>A
c.10157-36431G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51696400
chr6:51696727 C
C
 G
G
 110 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(107): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 110 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(107): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-36758G>C
c.10157-36758G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51696727
chr6:51696732 C
C
 T
T
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.10157-36763G>A
c.10157-36763G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51696732
chr6:51696794 G
G
 A
A
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-36825C>T
c.10157-36825C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51696794
chr6:51696822 C
C
 T
T
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.10157-36853G>A
c.10157-36853G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51696822
chr6:51697064 C
C
 T
T
 4 a0027c0069t0018g0092
a0038c0062t0002g0065
a0047c0051t0004g0056
others(1): Show 
a0027c0069t0018g0092
a0038c0062t0002g0065
a0047c0051t0004g0056
a0048c0023t0017g0081
 4 HG02622.hp1
HG02897.hp2
HG03041.hp2
others(1): Show 
HG02622.hp1
HG02897.hp2
HG03041.hp2
HG03139.hp2
 intron_variant MODIFIER c.10157-37095G>A
c.10157-37095G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697064
chr6:51697175 G
G
 A
A
 26 a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
others(23): Show 
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0021t0004g0128
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0010c0028t0001g0009
a0012c0027t0002g0005
a0017c0089t0002g0116
a0022c0042t0002g0051
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 26 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(23): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp1
HG03239.hp2
HG03486.hp2
HG03516.hp2
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-37206C>T
c.10157-37206C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697175
chr6:51697179 CAAAT
CAAAT
 C
C
 118 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(115): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 118 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-37214_10157-
others(12): Show 
c.10157-37214_10157-37211delATTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697179
chr6:51697468 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.10157-37499C>T
c.10157-37499C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697468
chr6:51697534 A
A
 G
G
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.10157-37565T>C
c.10157-37565T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697534
chr6:51697592 C
C
 T
T
 1 a0003c0015t0001g0041
a0003c0015t0001g0041
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-37623G>A
c.10157-37623G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697592
chr6:51697622 C
C
 G
G
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.10157-37653G>C
c.10157-37653G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697622
chr6:51697876 T
T
 A
A
 1 a0003c0015t0001g0041
a0003c0015t0001g0041
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-37907A>T
c.10157-37907A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697876
chr6:51697941 C
C
 T
T
 39 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(36): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0021t0004g0130
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
a0032c0058t0001g0070
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 39 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(36): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG01433.hp2
HG02155.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-37972G>A
c.10157-37972G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697941
chr6:51697987 T
T
 A
A
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.10157-38018A>T
c.10157-38018A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51697987
chr6:51698120 A
A
 G
G
 31 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(28): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0021t0004g0130
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0004c0043t0015g0057
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0021c0045t0001g0036
a0022c0042t0002g0051
a0032c0058t0001g0070
a0044c0075t0001g0119
a0046c0067t0003g0112
 31 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(28): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01261.hp1
HG01433.hp2
HG02155.hp1
HG02257.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03225.hp1
HG03239.hp2
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-38151T>C
c.10157-38151T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51698120
chr6:51698262 T
T
 C
C
 74 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(71): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 74 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(71): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.10157-38293A>G
c.10157-38293A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51698262
chr6:51698486 G
G
 T
T
 6 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
others(3): Show 
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0015t0001g0041
a0009c0056t0001g0073
 6 HG01255.hp1
HG03453.hp2
HG03471.hp1
others(3): Show 
HG01255.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
NA20300.hp2
 intron_variant MODIFIER c.10157-38517C>A
c.10157-38517C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51698486
chr6:51698722 A
A
 T
T
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-38753T>A
c.10157-38753T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51698722
chr6:51699242 C
C
 A
A
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.10157-39273G>T
c.10157-39273G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699242
chr6:51699333 A
A
 C
C
 10 a0005c0039t0001g0030
a0006c0011t0005g0063
a0011c0017t0005g0071
others(7): Show 
a0005c0039t0001g0030
a0006c0011t0005g0063
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 10 HG00741.hp1
HG02280.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-39364T>G
c.10157-39364T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699333
chr6:51699393 G
G
 A
A
 17 a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
others(14): Show 
a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0010c0026t0001g0013
a0012c0027t0002g0005
a0017c0089t0002g0116
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
 17 HG00423.hp1
HG00423.hp2
HG01243.hp2
others(14): Show 
HG00423.hp1
HG00423.hp2
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02280.hp1
HG02818.hp1
HG03486.hp2
HG03516.hp2
NA18971.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
 intron_variant MODIFIER c.10157-39424C>T
c.10157-39424C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699393
chr6:51699606 C
C
 T
T
 80 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(77): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 80 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(77): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.10157-39637G>A
c.10157-39637G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699606
chr6:51699632 A
A
 G
G
 14 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(11): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0005c0039t0001g0030
a0006c0011t0005g0063
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 14 HG00741.hp1
HG02040.hp1
HG02280.hp2
others(11): Show 
HG00741.hp1
HG02040.hp1
HG02280.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp1
HG03704.hp2
NA18964.hp2
NA20300.hp1
 intron_variant MODIFIER c.10157-39663T>C
c.10157-39663T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699632
chr6:51699856 G
G
 A
A
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-39887C>T
c.10157-39887C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699856
chr6:51699890 A
A
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.10157-39921T>G
c.10157-39921T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699890
chr6:51699917 T
T
 C
C
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.10157-39948A>G
c.10157-39948A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699917
chr6:51699920 A
A
 AGTGT
AGTGT
 4 a0007c0003t0001g0006
a0007c0003t0001g0011
a0007c0003t0001g0012
others(1): Show 
a0007c0003t0001g0006
a0007c0003t0001g0011
a0007c0003t0001g0012
a0025c0072t0001g0095
 4 HG06807.hp2
NA18975.hp2
NA18989.hp1
others(1): Show 
HG06807.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
 intron_variant MODIFIER c.10157-39955_10157-
others(12): Show 
c.10157-39955_10157-39952dupACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGT
AGTGTGT
 12 a0001c0001t0001g0061
a0001c0022t0001g0129
a0001c0061t0001g0064
others(9): Show 
a0001c0001t0001g0061
a0001c0022t0001g0129
a0001c0061t0001g0064
a0002c0079t0007g0089
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0008
a0011c0017t0005g0080
a0014c0024t0001g0004
 12 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(9): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01255.hp1
HG02451.hp1
HG02486.hp2
HG03453.hp1
HG03540.hp1
HG03669.hp1
NA19090.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10157-39957_10157-
others(14): Show 
c.10157-39957_10157-39952dupACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(1): Show 
AGTGTGTAT
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-39952_10157-
others(16): Show 
c.10157-39952_10157-39951insATACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(5): Show 
AGTGTGTATGTGT
 7 a0001c0093t0001g0127
a0002c0005t0002g0018
a0002c0021t0004g0128
others(4): Show 
a0001c0093t0001g0127
a0002c0005t0002g0018
a0002c0021t0004g0128
a0005c0038t0001g0034
a0005c0040t0001g0029
a0008c0018t0020g0074
a0012c0029t0002g0010
 7 HG00738.hp1
HG01074.hp2
HG01433.hp1
others(4): Show 
HG00738.hp1
HG01074.hp2
HG01433.hp1
HG02055.hp2
HG03098.hp1
HG03098.hp2
NA20752.hp1
 intron_variant MODIFIER c.10157-39952_10157-
others(20): Show 
c.10157-39952_10157-39951insACACATACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(7): Show 
AGTGTGTATGTGTGT
 10 a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0005t0002g0021
others(7): Show 
a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0008c0053t0016g0069
a0010c0026t0001g0013
a0024c0068t0001g0091
a0041c0088t0006g0114
a0045c0084t0006g0087
 10 HG02055.hp1
HG02280.hp1
HG02896.hp2
others(7): Show 
HG02055.hp1
HG02280.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp2
NA19007.hp1
 intron_variant MODIFIER c.10157-39952_10157-
others(22): Show 
c.10157-39952_10157-39951insACACACATACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(9): Show 
AGTGTGTATGTGTGTGT
 12 a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
others(9): Show 
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0046t0002g0050
a0006c0078t0005g0104
a0009c0054t0001g0082
a0012c0027t0002g0005
a0013c0095t0014g0122
a0017c0089t0002g0116
 12 HG00423.hp2
HG01243.hp2
HG01255.hp2
others(9): Show 
HG00423.hp2
HG01243.hp2
HG01255.hp2
HG02015.hp2
HG02155.hp1
HG02451.hp2
HG02976.hp2
HG03704.hp1
HG04204.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp1
 intron_variant MODIFIER c.10157-39952_10157-
others(24): Show 
c.10157-39952_10157-39951insACACACACATACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(11): Show 
AGTGTGTATGTGTGTGTGT
 12 a0001c0019t0001g0118
a0001c0022t0001g0132
a0003c0007t0001g0037
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0132
a0003c0007t0001g0037
a0003c0007t0001g0043
a0004c0014t0004g0024
a0004c0014t0004g0033
a0009c0087t0001g0111
a0010c0028t0001g0009
a0015c0025t0001g0031
a0020c0050t0001g0023
a0030c0055t0002g0072
a0036c0074t0003g0108
 12 HG00741.hp2
HG01081.hp1
HG01106.hp2
others(9): Show 
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG02015.hp1
HG02683.hp2
HG02818.hp1
NA18747.hp1
NA18964.hp1
NA18971.hp2
NA20129.hp2
 intron_variant MODIFIER c.10157-39952_10157-
others(26): Show 
c.10157-39952_10157-39951insACACACACACATACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(13): Show 
AGTGTGTATGTGTGTGTGTGT
 8 a0001c0002t0001g0083
a0001c0019t0001g0097
a0002c0004t0004g0115
others(5): Show 
a0001c0002t0001g0083
a0001c0019t0001g0097
a0002c0004t0004g0115
a0002c0033t0002g0017
a0002c0092t0004g0002
a0004c0006t0003g0040
a0021c0045t0001g0036
a0040c0081t0001g0124
 8 HG01433.hp2
HG04228.hp1
NA18747.hp2
others(5): Show 
HG01433.hp2
HG04228.hp1
NA18747.hp2
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.10157-39952_10157-
others(28): Show 
c.10157-39952_10157-39951insACACACACACACATACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(15): Show 
AGTGTGTATGTGTGTGTGTGTGT
 12 a0001c0002t0001g0107
a0002c0004t0003g0085
a0002c0004t0003g0126
others(9): Show 
a0001c0002t0001g0107
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0003g0084
a0003c0007t0001g0049
a0003c0012t0001g0025
a0004c0008t0003g0003
a0004c0008t0004g0045
a0016c0090t0001g0120
a0023c0044t0001g0044
a0035c0086t0001g0109
a0039c0066t0003g0098
 12 HG01081.hp2
HG01261.hp2
HG01496.hp2
others(9): Show 
HG01081.hp2
HG01261.hp2
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02155.hp2
HG03239.hp1
HG04204.hp1
HG06807.hp1
NA18989.hp2
NA19001.hp2
NA19054.hp1
 intron_variant MODIFIER c.10157-39952_10157-
others(30): Show 
c.10157-39952_10157-39951insACACACACACACACATACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(17): Show 
AGTGTGTATGTGTGTGTGTGTGTGT
 7 a0001c0002t0001g0117
a0002c0004t0010g0101
a0003c0036t0001g0042
others(4): Show 
a0001c0002t0001g0117
a0002c0004t0010g0101
a0003c0036t0001g0042
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0076t0005g0088
a0034c0085t0004g0096
 7 HG00423.hp1
HG00738.hp2
HG01496.hp1
others(4): Show 
HG00423.hp1
HG00738.hp2
HG01496.hp1
HG02257.hp1
HG02486.hp1
HG02683.hp1
HG03669.hp2
 intron_variant MODIFIER c.10157-39952_10157-
others(32): Show 
c.10157-39952_10157-39951insACACACACACACACACATACAC
AC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTA
others(19): Show 
AGTGTGTATGTGTGTGTGTGTGTGTGT
 3 a0001c0002t0001g0113
a0001c0032t0001g0075
a0006c0011t0005g0134
a0001c0002t0001g0113
a0001c0032t0001g0075
a0006c0011t0005g0134
 3 HG02040.hp2
HG04184.hp1
NA19240.hp1
HG02040.hp2
HG04184.hp1
NA19240.hp1
 intron_variant MODIFIER c.10157-39952_10157-
others(34): Show 
c.10157-39952_10157-39951insACACACACACACACACACATAC
ACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTG
others(1): Show 
AGTGTGTGT
 14 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(11): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0009t0001g0106
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0091t0007g0133
a0032c0058t0001g0070
a0038c0062t0002g0065
a0044c0075t0001g0119
a0046c0067t0003g0112
 14 HG01074.hp1
HG01261.hp1
HG02809.hp1
others(11): Show 
HG01074.hp1
HG01261.hp1
HG02809.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA18988.hp1
NA19007.hp2
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.10157-39959_10157-
others(16): Show 
c.10157-39959_10157-39952dupACACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 18 a0001c0001t0001g0058
a0001c0009t0001g0123
a0002c0005t0004g0076
others(15): Show 
a0001c0001t0001g0058
a0001c0009t0001g0123
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0005c0039t0001g0030
a0006c0011t0005g0063
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0018c0052t0006g0086
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0043c0063t0005g0066
 18 HG00741.hp1
HG02257.hp2
HG02280.hp2
others(15): Show 
HG00741.hp1
HG02257.hp2
HG02280.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03139.hp1
HG03486.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.10157-39961_10157-
others(18): Show 
c.10157-39961_10157-39952dupACACACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51699920 A
A
 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 6 a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0010t0001g0077
others(3): Show 
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
 6 HG02040.hp1
HG02622.hp2
HG02922.hp2
others(3): Show 
HG02040.hp1
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.10157-39963_10157-
others(20): Show 
c.10157-39963_10157-39952dupACACACACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51699920
chr6:51700271 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.10157-40302A>G
c.10157-40302A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51700271
chr6:51700646 T
T
 A
A
 14 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(11): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0005c0039t0001g0030
a0006c0011t0005g0063
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 14 HG00741.hp1
HG02040.hp1
HG02280.hp2
others(11): Show 
HG00741.hp1
HG02040.hp1
HG02280.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp1
HG03704.hp2
NA18964.hp2
NA20300.hp1
 intron_variant MODIFIER c.10157-40677A>T
c.10157-40677A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51700646
chr6:51700717 T
T
 C
C
 2 a0001c0002t0001g0107
a0001c0019t0001g0097
a0001c0002t0001g0107
a0001c0019t0001g0097
 2 NA19005.hp2
NA19054.hp1
NA19005.hp2
NA19054.hp1
 intron_variant MODIFIER c.10157-40748A>G
c.10157-40748A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51700717
chr6:51700774 A
A
 T
T
 1 a0035c0086t0001g0109
a0035c0086t0001g0109
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.10157-40805T>A
c.10157-40805T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51700774
chr6:51701026 C
C
 T
T
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-41057G>A
c.10157-41057G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51701026
chr6:51701222 A
A
 T
T
 5 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(2): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 5 HG02280.hp2
HG02818.hp2
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10157-41253T>A
c.10157-41253T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51701222
chr6:51701408 G
G
 T
T
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.10157-41439C>A
c.10157-41439C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51701408
chr6:51701452 T
T
 C
C
 1 a0035c0086t0001g0109
a0035c0086t0001g0109
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.10157-41483A>G
c.10157-41483A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51701452
chr6:51701610 G
G
 A
A
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10157-41641C>T
c.10157-41641C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51701610
chr6:51701799 G
G
 A
A
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.10157-41830C>T
c.10157-41830C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51701799
chr6:51702145 T
T
 TTATTATA
others(20): Show 
TTATTATATATTATATATATTATATGTA
 2 a0002c0005t0002g0021
a0004c0006t0002g0048
a0002c0005t0002g0021
a0004c0006t0002g0048
 2 HG02055.hp1
HG03486.hp2
HG02055.hp1
HG03486.hp2
 intron_variant MODIFIER c.10157-42203_10157-
others(35): Show 
c.10157-42203_10157-42177dupTACATATAATATATATAATATA
TAATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702145
chr6:51702149 T
T
 TATATATT
others(25): Show 
TATATATTATATATATTATACATATAATATATA
 5 a0006c0011t0005g0063
a0026c0073t0005g0094
a0028c0071t0012g0093
others(2): Show 
a0006c0011t0005g0063
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 5 HG00741.hp1
HG02717.hp1
HG02809.hp2
others(2): Show 
HG00741.hp1
HG02717.hp1
HG02809.hp2
HG02896.hp1
NA20300.hp1
 intron_variant MODIFIER c.10157-42181_10157-
others(40): Show 
c.10157-42181_10157-42180insTATATATTATATGTATAATATA
TATAATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702149
chr6:51702149 T
T
 TATATATT
others(57): Show 
TATATATTATATATATTATACATATAATATATAATATATTATATATATTA
TACGTATAATATATA
 9 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(6): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 9 HG02040.hp1
HG02280.hp2
HG02698.hp2
others(6): Show 
HG02040.hp1
HG02280.hp2
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.10157-42181_10157-
others(72): Show 
c.10157-42181_10157-42180insTATATATTATACGTATAATATA
TATAATATATTATATATTATATGTATAATATATATAATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702149
chr6:51702149 T
T
 TATATATT
others(25): Show 
TATATATTATATATATTATATGTATAATATATA
 11 a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
others(8): Show 
a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0008c0053t0016g0069
a0015c0025t0001g0031
a0020c0050t0001g0023
a0036c0074t0003g0108
a0039c0066t0003g0098
 11 HG01106.hp2
HG01496.hp2
HG02155.hp2
others(8): Show 
HG01106.hp2
HG01496.hp2
HG02155.hp2
HG02683.hp2
HG02965.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18989.hp2
NA19001.hp2
 intron_variant MODIFIER c.10156+42204_10157-
others(40): Show 
c.10156+42204_10157-42181dupTATATATTATACATATAATATA
TATAATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702149
chr6:51702169 T
T
 C
C
 15 a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0016t0001g0027
others(12): Show 
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0005c0039t0001g0030
a0006c0011t0005g0063
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 15 HG00741.hp1
HG02040.hp1
HG02280.hp2
others(12): Show 
HG00741.hp1
HG02040.hp1
HG02280.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp1
HG03704.hp2
HG04228.hp2
NA18964.hp2
NA20300.hp1
 intron_variant MODIFIER c.10157-42200A>G
c.10157-42200A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702169
chr6:51702187 T
T
 G
G
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.10156+42198A>C
c.10156+42198A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702187
chr6:51702253 C
C
 T
T
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10156+42132G>A
c.10156+42132G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702253
chr6:51702395 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.10156+41990C>T
c.10156+41990C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702395
chr6:51702419 G
G
 T
T
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+41966C>A
c.10156+41966C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702419
chr6:51702491 G
G
 A
A
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.10156+41894C>T
c.10156+41894C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702491
chr6:51702508 A
A
 G
G
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.10156+41877T>C
c.10156+41877T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702508
chr6:51702560 G
G
 C
C
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+41825C>G
c.10156+41825C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702560
chr6:51702652 C
C
 T
T
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.10156+41733G>A
c.10156+41733G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702652
chr6:51702777 A
A
 G
G
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+41608T>C
c.10156+41608T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702777
chr6:51702890 A
A
 AT
AT
 56 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(53): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0028t0001g0009
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0030c0055t0002g0072
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
 56 HG00738.hp1
HG00738.hp2
HG00741.hp2
others(53): Show 
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+41494dupA
c.10156+41494dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702890
chr6:51702890 A
A
 ATT
ATT
 12 a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0080t0002g0121
others(9): Show 
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0046t0002g0050
a0010c0026t0001g0013
a0012c0027t0002g0005
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 12 HG00423.hp1
HG00423.hp2
HG01243.hp2
others(9): Show 
HG00423.hp1
HG00423.hp2
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG03041.hp1
NA18988.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
 intron_variant MODIFIER c.10156+41493_10156+
others(10): Show 
c.10156+41493_10156+41494dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702890
chr6:51702890 AT
AT
 A
A
 37 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(34): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 37 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(34): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.10156+41494delA
c.10156+41494delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702890
chr6:51702890 ATTTT
ATTTT
 A
A
 5 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
others(2): Show 
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0009c0056t0001g0073
 5 HG01255.hp1
HG03453.hp2
HG03471.hp1
others(2): Show 
HG01255.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
 intron_variant MODIFIER c.10156+41491_10156+
others(12): Show 
c.10156+41491_10156+41494delAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702890
chr6:51702910 T
T
 G
G
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+41475A>C
c.10156+41475A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51702910
chr6:51703084 C
C
 A
A
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.10156+41301G>T
c.10156+41301G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51703084
chr6:51703539 T
T
 C
C
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.10156+40846A>G
c.10156+40846A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51703539
chr6:51704073 T
T
 C
C
 74 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(71): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
 74 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(71): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+40312A>G
c.10156+40312A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704073
chr6:51704083 T
T
 C
C
 9 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(6): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 9 HG02040.hp1
HG02280.hp2
HG02698.hp2
others(6): Show 
HG02040.hp1
HG02280.hp2
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+40302A>G
c.10156+40302A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704083
chr6:51704285 G
G
 A
A
 9 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(6): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 9 HG02040.hp1
HG02280.hp2
HG02698.hp2
others(6): Show 
HG02040.hp1
HG02280.hp2
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+40100C>T
c.10156+40100C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704285
chr6:51704315 T
T
 C
C
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.10156+40070A>G
c.10156+40070A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704315
chr6:51704636 C
C
 T
T
 1 a0030c0055t0002g0072
a0030c0055t0002g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.10156+39749G>A
c.10156+39749G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704636
chr6:51704654 G
G
 A
A
 5 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(2): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 5 HG02280.hp2
HG02818.hp2
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10156+39731C>T
c.10156+39731C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704654
chr6:51704821 A
A
 G
G
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+39564T>C
c.10156+39564T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704821
chr6:51704893 A
A
 C
C
 1 a0007c0003t0001g0008
a0007c0003t0001g0008
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.10156+39492T>G
c.10156+39492T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51704893
chr6:51705068 C
C
 A
A
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.10156+39317G>T
c.10156+39317G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51705068
chr6:51705199 C
C
 T
T
 11 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(8): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0002c0005t0004g0076
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0044c0075t0001g0119
 11 HG01261.hp1
HG03669.hp1
HG04184.hp2
others(8): Show 
HG01261.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.10156+39186G>A
c.10156+39186G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51705199
chr6:51705203 G
G
 C
C
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.10156+39182C>G
c.10156+39182C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51705203
chr6:51705493 G
G
 A
A
 1 a0010c0026t0001g0013
a0010c0026t0001g0013
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.10156+38892C>T
c.10156+38892C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51705493
chr6:51705663 A
A
 G
G
 52 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(49): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0028t0001g0009
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0045c0084t0006g0087
 52 HG00738.hp1
HG00738.hp2
HG00741.hp2
others(49): Show 
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02257.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.10156+38722T>C
c.10156+38722T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51705663
chr6:51705751 G
G
 A
A
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.10156+38634C>T
c.10156+38634C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51705751
chr6:51706481 T
T
 TA
TA
 78 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(75): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 78 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(75): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.10156+37903dupT
c.10156+37903dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51706481
chr6:51706481 T
T
 TAA
TAA
 40 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(37): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0014c0024t0001g0004
a0016c0090t0001g0120
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 40 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(37): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01261.hp1
HG02015.hp2
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03669.hp1
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+37902_10156+
others(10): Show 
c.10156+37902_10156+37903dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51706481
chr6:51706481 T
T
 TAAA
TAAA
 6 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(3): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0010c0030t0001g0007
a0025c0072t0001g0095
 6 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(3): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
HG04184.hp2
HG06807.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+37901_10156+
others(11): Show 
c.10156+37901_10156+37903dupTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51706481
chr6:51706532 G
G
 A
A
 114 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(111): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0029c0070t0008g0090
a0030c0055t0002g0072
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 114 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(111): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+37853C>T
c.10156+37853C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51706532
chr6:51706628 C
C
 T
T
 5 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
others(2): Show 
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0009c0056t0001g0073
 5 HG01255.hp1
HG03453.hp2
HG03471.hp1
others(2): Show 
HG01255.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
 intron_variant MODIFIER c.10156+37757G>A
c.10156+37757G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51706628
chr6:51707123 T
T
 C
C
 2 a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0008
a0007c0003t0001g0011
 2 NA18989.hp1
NA19090.hp1
NA18989.hp1
NA19090.hp1
 intron_variant MODIFIER c.10156+37262A>G
c.10156+37262A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707123
chr6:51707146 C
C
 T
T
 35 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(32): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0025c0072t0001g0095
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 35 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(32): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+37239G>A
c.10156+37239G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707146
chr6:51707198 A
A
 G
G
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+37187T>C
c.10156+37187T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707198
chr6:51707323 G
G
 A
A
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+37062C>T
c.10156+37062C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707323
chr6:51707416 T
T
 C
C
 4 a0001c0083t0001g0125
a0006c0078t0005g0104
a0027c0069t0018g0092
others(1): Show 
a0001c0083t0001g0125
a0006c0078t0005g0104
a0027c0069t0018g0092
a0048c0023t0017g0081
 4 HG02451.hp2
HG02622.hp1
HG02897.hp2
others(1): Show 
HG02451.hp2
HG02622.hp1
HG02897.hp2
NA20129.hp1
 intron_variant MODIFIER c.10156+36969A>G
c.10156+36969A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707416
chr6:51707429 T
T
 G
G
 34 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(31): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0022c0042t0002g0051
a0029c0070t0008g0090
a0032c0058t0001g0070
a0033c0059t0008g0001
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 34 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(31): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+36956A>C
c.10156+36956A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707429
chr6:51707717 G
G
 A
A
 55 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(52): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0083t0001g0125
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0078t0005g0104
a0009c0056t0001g0073
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0031c0057t0013g0067
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0043c0063t0005g0066
a0048c0023t0017g0081
 55 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(52): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02280.hp2
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+36668C>T
c.10156+36668C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707717
chr6:51707948 G
G
 A
A
 9 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(6): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
 9 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(6): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.10156+36437C>T
c.10156+36437C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51707948
chr6:51708503 C
C
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.10156+35882G>C
c.10156+35882G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51708503
chr6:51708792 A
A
 C
C
 1 a0003c0013t0001g0052
a0003c0013t0001g0052
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.10156+35593T>G
c.10156+35593T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51708792
chr6:51708824 G
G
 A
A
 1 a0003c0015t0001g0041
a0003c0015t0001g0041
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.10156+35561C>T
c.10156+35561C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51708824
chr6:51708940 G
G
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+35445C>G
c.10156+35445C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51708940
chr6:51709014 C
C
 G
G
 6 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(3): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
a0048c0023t0017g0081
 6 HG02280.hp2
HG02622.hp1
HG02818.hp2
others(3): Show 
HG02280.hp2
HG02622.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10156+35371G>C
c.10156+35371G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709014
chr6:51709078 C
C
 T
T
 8 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
others(5): Show 
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 8 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(5): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+35307G>A
c.10156+35307G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709078
chr6:51709113 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.10156+35272G>A
c.10156+35272G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709113
chr6:51709123 C
C
 A
A
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+35262G>T
c.10156+35262G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709123
chr6:51709385 G
G
 A
A
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.10156+35000C>T
c.10156+35000C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709385
chr6:51709547 T
T
 C
C
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+34838A>G
c.10156+34838A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709547
chr6:51709548 G
G
 A
A
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+34837C>T
c.10156+34837C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709548
chr6:51709550 T
T
 C
C
 109 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(106): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 109 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(106): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+34835A>G
c.10156+34835A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709550
chr6:51709849 A
A
 AT
AT
 5 a0002c0005t0002g0018
a0006c0011t0005g0063
a0008c0018t0020g0074
others(2): Show 
a0002c0005t0002g0018
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0087t0001g0111
a0012c0029t0002g0010
 5 HG01243.hp1
HG02055.hp2
HG02809.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02809.hp2
HG03098.hp1
NA20752.hp1
 intron_variant MODIFIER c.10156+34535dupA
c.10156+34535dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709849
chr6:51709849 A
A
 ATT
ATT
 32 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(29): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0007c0003t0001g0011
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 32 HG00741.hp2
HG01081.hp1
HG01081.hp2
others(29): Show 
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+34534_10156+
others(10): Show 
c.10156+34534_10156+34535dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709849
chr6:51709849 A
A
 ATTT
ATTT
 68 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(65): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0030t0001g0007
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0022c0042t0002g0051
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
 68 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(65): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+34533_10156+
others(11): Show 
c.10156+34533_10156+34535dupAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709849
chr6:51709849 A
A
 ATTTT
ATTTT
 8 a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
others(5): Show 
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0011c0017t0005g0071
a0011c0017t0005g0080
a0038c0062t0002g0065
a0048c0023t0017g0081
 8 HG02280.hp2
HG02451.hp2
HG02486.hp1
others(5): Show 
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02818.hp2
HG03041.hp2
HG03540.hp1
NA19240.hp1
 intron_variant MODIFIER c.10156+34532_10156+
others(12): Show 
c.10156+34532_10156+34535dupAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709849
chr6:51709931 G
G
 T
T
 7 a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
others(4): Show 
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0015c0025t0001g0031
a0020c0050t0001g0023
a0036c0074t0003g0108
 7 HG01106.hp2
HG01496.hp2
HG02683.hp2
others(4): Show 
HG01106.hp2
HG01496.hp2
HG02683.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA19001.hp2
 intron_variant MODIFIER c.10156+34454C>A
c.10156+34454C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51709931
chr6:51710020 C
C
 A
A
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.10156+34365G>T
c.10156+34365G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710020
chr6:51710079 G
G
 A
A
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.10156+34306C>T
c.10156+34306C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710079
chr6:51710115 C
C
 T
T
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+34270G>A
c.10156+34270G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710115
chr6:51710135 G
G
 A
A
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0034t0001g0016
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0040c0081t0001g0124
 39 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(36): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+34250C>T
c.10156+34250C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710135
chr6:51710313 G
G
 A
A
 1 a0003c0012t0001g0032
a0003c0012t0001g0032
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.10156+34072C>T
c.10156+34072C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710313
chr6:51710466 C
C
 A
A
 2 a0029c0070t0008g0090
a0033c0059t0008g0001
a0029c0070t0008g0090
a0033c0059t0008g0001
 2 HG01175.hp1
HG03471.hp2
HG01175.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+33919G>T
c.10156+33919G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710466
chr6:51710506 C
C
 T
T
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.10156+33879G>A
c.10156+33879G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710506
chr6:51710527 G
G
 C
C
 107 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(104): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 107 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(104): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+33858C>G
c.10156+33858C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710527
chr6:51710595 C
C
 T
T
 2 a0001c0019t0001g0118
a0002c0033t0002g0017
a0001c0019t0001g0118
a0002c0033t0002g0017
 2 NA18747.hp2
NA18964.hp1
NA18747.hp2
NA18964.hp1
 intron_variant MODIFIER c.10156+33790G>A
c.10156+33790G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710595
chr6:51710696 T
T
 C
C
 20 a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
others(17): Show 
a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0010c0026t0001g0013
a0012c0027t0002g0005
a0017c0089t0002g0116
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
 20 HG00423.hp1
HG00423.hp2
HG01243.hp2
others(17): Show 
HG00423.hp1
HG00423.hp2
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA18971.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.10156+33689A>G
c.10156+33689A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51710696
chr6:51711233 C
C
 A
A
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+33152G>T
c.10156+33152G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51711233
chr6:51711271 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+33114G>A
c.10156+33114G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51711271
chr6:51711495 C
C
 T
T
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+32890G>A
c.10156+32890G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51711495
chr6:51711612 A
A
 T
T
 29 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(26): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 29 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(26): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+32773T>A
c.10156+32773T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51711612
chr6:51711626 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
 3 HG02257.hp2
HG02717.hp2
HG03225.hp1
HG02257.hp2
HG02717.hp2
HG03225.hp1
 intron_variant MODIFIER c.10156+32759A>G
c.10156+32759A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51711626
chr6:51711802 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+32583G>A
c.10156+32583G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51711802
chr6:51712372 G
G
 A
A
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+32013C>T
c.10156+32013C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51712372
chr6:51712428 C
C
 G
G
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.10156+31957G>C
c.10156+31957G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51712428
chr6:51712724 A
A
 G
G
 4 a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
others(1): Show 
a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
a0012c0029t0002g0010
 4 HG01243.hp1
HG02055.hp2
HG02809.hp2
others(1): Show 
HG01243.hp1
HG02055.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+31661T>C
c.10156+31661T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51712724
chr6:51712864 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.10156+31521C>T
c.10156+31521C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51712864
chr6:51713233 T
T
 A
A
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+31152A>T
c.10156+31152A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51713233
chr6:51713311 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+31074G>A
c.10156+31074G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51713311
chr6:51713792 G
G
 A
A
 1 a0003c0012t0001g0032
a0003c0012t0001g0032
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.10156+30593C>T
c.10156+30593C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51713792
chr6:51714109 G
G
 C
C
 111 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(108): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 111 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(108): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+30276C>G
c.10156+30276C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51714109
chr6:51714262 C
C
 T
T
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+30123G>A
c.10156+30123G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51714262
chr6:51714369 CA
CA
 C
C
 113 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(110): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 113 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(110): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+30015delT
c.10156+30015delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51714369
chr6:51714797 C
C
 T
T
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 108 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+29588G>A
c.10156+29588G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51714797
chr6:51715096 G
G
 A
A
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.10156+29289C>T
c.10156+29289C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715096
chr6:51715127 C
C
 G
G
 6 a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
others(3): Show 
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0003c0048t0001g0047
a0005c0037t0001g0038
a0019c0049t0001g0035
 6 HG01106.hp1
HG02451.hp1
HG02486.hp2
others(3): Show 
HG01106.hp1
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG03453.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+29258G>C
c.10156+29258G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715127
chr6:51715307 ATTCCCAA
others(4): Show 
ATTCCCAACTCC
 A
A
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+29067_10156+
others(19): Show 
c.10156+29067_10156+29077delGGAGTTGGGAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715307
chr6:51715320 C
C
 T
T
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+29065G>A
c.10156+29065G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715320
chr6:51715322 C
C
 T
T
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+29063G>A
c.10156+29063G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715322
chr6:51715327 A
A
 C
C
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+29058T>G
c.10156+29058T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715327
chr6:51715329 T
T
 G
G
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+29056A>C
c.10156+29056A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715329
chr6:51715330 ATGCTT
ATGCTT
 A
A
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+29050_10156+
others(13): Show 
c.10156+29050_10156+29054delAAGCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715330
chr6:51715339 C
C
 T
T
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+29046G>A
c.10156+29046G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715339
chr6:51715806 T
T
 C
C
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.10156+28579A>G
c.10156+28579A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715806
chr6:51715850 T
T
 C
C
 20 a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
others(17): Show 
a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0010c0026t0001g0013
a0012c0027t0002g0005
a0017c0089t0002g0116
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
 20 HG00423.hp1
HG00423.hp2
HG01243.hp2
others(17): Show 
HG00423.hp1
HG00423.hp2
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA18971.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.10156+28535A>G
c.10156+28535A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51715850
chr6:51716004 G
G
 C
C
 4 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(1): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 4 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(1): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+28381C>G
c.10156+28381C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716004
chr6:51716046 T
T
 C
C
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.10156+28339A>G
c.10156+28339A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716046
chr6:51716049 T
T
 A
A
 113 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(110): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 113 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(110): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+28336A>T
c.10156+28336A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716049
chr6:51716050 A
A
 G
G
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.10156+28335T>C
c.10156+28335T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716050
chr6:51716185 C
C
 A
A
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.10156+28200G>T
c.10156+28200G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716185
chr6:51716528 G
G
 A
A
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.10156+27857C>T
c.10156+27857C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716528
chr6:51716646 T
T
 C
C
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.10156+27739A>G
c.10156+27739A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716646
chr6:51716678 AC
AC
 A
A
 6 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(3): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
a0048c0023t0017g0081
 6 HG02280.hp2
HG02622.hp1
HG02818.hp2
others(3): Show 
HG02280.hp2
HG02622.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10156+27706delG
c.10156+27706delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716678
chr6:51716702 G
G
 T
T
 1 a0003c0016t0001g0027
a0003c0016t0001g0027
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.10156+27683C>A
c.10156+27683C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716702
chr6:51716750 T
T
 C
C
 21 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(18): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0043t0015g0057
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 21 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(18): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01261.hp1
HG02257.hp2
HG02717.hp2
HG03225.hp1
HG03239.hp2
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+27635A>G
c.10156+27635A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716750
chr6:51716780 C
C
 T
T
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.10156+27605G>A
c.10156+27605G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716780
chr6:51716920 G
G
 A
A
 4 a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
others(1): Show 
a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
a0012c0029t0002g0010
 4 HG01243.hp1
HG02055.hp2
HG02809.hp2
others(1): Show 
HG01243.hp1
HG02055.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+27465C>T
c.10156+27465C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716920
chr6:51716972 T
T
 C
C
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.10156+27413A>G
c.10156+27413A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716972
chr6:51716994 T
T
 C
C
 4 a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
others(1): Show 
a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
a0012c0029t0002g0010
 4 HG01243.hp1
HG02055.hp2
HG02809.hp2
others(1): Show 
HG01243.hp1
HG02055.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+27391A>G
c.10156+27391A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51716994
chr6:51717114 C
C
 T
T
 40 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(37): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0083t0001g0125
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0040c0081t0001g0124
 40 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(37): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.10156+27271G>A
c.10156+27271G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717114
chr6:51717185 G
G
 A
A
 2 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0002t0009g0099
a0001c0002t0009g0100
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.10156+27200C>T
c.10156+27200C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717185
chr6:51717200 T
T
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+27185A>T
c.10156+27185A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717200
chr6:51717279 G
G
 A
A
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+27106C>T
c.10156+27106C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717279
chr6:51717338 G
G
 A
A
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+27047C>T
c.10156+27047C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717338
chr6:51717412 CA
CA
 C
C
 49 a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0060
others(46): Show 
a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0043t0015g0057
a0004c0046t0002g0050
a0005c0037t0001g0038
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0026t0001g0013
a0010c0030t0001g0007
a0012c0027t0002g0005
a0014c0024t0001g0004
a0017c0089t0002g0116
a0019c0049t0001g0035
a0022c0042t0002g0051
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 49 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(46): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+26972delT
c.10156+26972delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717412
chr6:51717523 T
T
 C
C
 20 a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
others(17): Show 
a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0010c0026t0001g0013
a0012c0027t0002g0005
a0017c0089t0002g0116
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
 20 HG00423.hp1
HG00423.hp2
HG01243.hp2
others(17): Show 
HG00423.hp1
HG00423.hp2
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA18971.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.10156+26862A>G
c.10156+26862A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717523
chr6:51717755 C
C
 T
T
 5 a0001c0001t0001g0061
a0011c0017t0005g0071
a0011c0017t0005g0080
others(2): Show 
a0001c0001t0001g0061
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 5 HG02280.hp2
HG02451.hp1
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02451.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10156+26630G>A
c.10156+26630G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51717755
chr6:51718196 A
A
 G
G
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+26189T>C
c.10156+26189T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51718196
chr6:51718323 C
C
 G
G
 2 a0001c0022t0001g0129
a0003c0015t0001g0039
a0001c0022t0001g0129
a0003c0015t0001g0039
 2 HG01071.hp1
homoSapiens_chm13v2.hp1
HG01071.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+26062G>C
c.10156+26062G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51718323
chr6:51718338 G
G
 A
A
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.10156+26047C>T
c.10156+26047C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51718338
chr6:51718428 T
T
 G
G
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10156+25957A>C
c.10156+25957A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51718428
chr6:51718484 G
G
 A
A
 29 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(26): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 29 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(26): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+25901C>T
c.10156+25901C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51718484
chr6:51719023 C
C
 G
G
 29 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(26): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 29 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(26): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+25362G>C
c.10156+25362G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719023
chr6:51719051 T
T
 A
A
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.10156+25334A>T
c.10156+25334A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719051
chr6:51719107 T
T
 TATATA
TATATA
 112 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(109): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 112 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(109): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+25273_10156+
others(13): Show 
c.10156+25273_10156+25277dupTATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719107
chr6:51719257 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+25128T>C
c.10156+25128T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719257
chr6:51719388 C
C
 A
A
 29 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(26): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 29 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(26): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+24997G>T
c.10156+24997G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719388
chr6:51719511 A
A
 C
C
 10 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(7): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
a0027c0069t0018g0092
 10 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(7): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.10156+24874T>G
c.10156+24874T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719511
chr6:51719826 G
G
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.10156+24559C>T
c.10156+24559C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719826
chr6:51719887 C
C
 T
T
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+24498G>A
c.10156+24498G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719887
chr6:51719946 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+24439G>A
c.10156+24439G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719946
chr6:51719988 T
T
 C
C
 10 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(7): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
a0027c0069t0018g0092
 10 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(7): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.10156+24397A>G
c.10156+24397A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51719988
chr6:51720747 GTA
GTA
 G
G
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+23636_10156+
others(10): Show 
c.10156+23636_10156+23637delTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720747
chr6:51720751 A
A
 ATG
ATG
 12 a0002c0031t0003g0014
a0003c0012t0001g0025
a0004c0006t0003g0040
others(9): Show 
a0002c0031t0003g0014
a0003c0012t0001g0025
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0006c0011t0005g0134
a0006c0076t0005g0088
a0020c0050t0001g0023
a0033c0059t0008g0001
a0036c0074t0003g0108
a0042c0035t0006g0059
a0047c0051t0004g0056
 12 HG01106.hp2
HG01496.hp2
HG02486.hp1
others(9): Show 
HG01106.hp2
HG01496.hp2
HG02486.hp1
HG02683.hp2
HG02970.hp1
HG03139.hp2
HG03471.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA19001.hp2
NA19240.hp1
 intron_variant MODIFIER c.10156+23632_10156+
others(10): Show 
c.10156+23632_10156+23633dupCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720751
chr6:51720751 A
A
 ATGTG
ATGTG
 2 a0015c0025t0001g0031
a0027c0069t0018g0092
a0015c0025t0001g0031
a0027c0069t0018g0092
 2 HG02897.hp2
NA18747.hp1
HG02897.hp2
NA18747.hp1
 intron_variant MODIFIER c.10156+23630_10156+
others(12): Show 
c.10156+23630_10156+23633dupCACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720751
chr6:51720751 ATG
ATG
 A
A
 14 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(11): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0021t0004g0128
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0056t0001g0073
a0018c0052t0006g0086
 14 HG00738.hp1
HG01074.hp2
HG01433.hp1
others(11): Show 
HG00738.hp1
HG01074.hp2
HG01433.hp1
HG02040.hp1
HG02257.hp1
HG02622.hp2
HG02698.hp2
HG02922.hp2
HG02976.hp1
HG03139.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.10156+23632_10156+
others(10): Show 
c.10156+23632_10156+23633delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720751
chr6:51720751 ATGTG
ATGTG
 A
A
 8 a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0005t0002g0018
others(5): Show 
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0005t0002g0018
a0002c0020t0003g0084
a0005c0038t0001g0034
a0006c0011t0005g0063
a0009c0087t0001g0111
a0012c0029t0002g0010
 8 HG01243.hp1
HG02055.hp2
HG02155.hp2
others(5): Show 
HG01243.hp1
HG02055.hp2
HG02155.hp2
HG02809.hp2
HG03098.hp2
NA18989.hp2
NA20129.hp1
NA20752.hp1
 intron_variant MODIFIER c.10156+23630_10156+
others(12): Show 
c.10156+23630_10156+23633delCACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720751
chr6:51720751 ATGTGTGT
others(1): Show 
ATGTGTGTG
 A
A
 2 a0008c0018t0020g0074
a0045c0084t0006g0087
a0008c0018t0020g0074
a0045c0084t0006g0087
 2 HG03041.hp1
HG03098.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+23626_10156+
others(16): Show 
c.10156+23626_10156+23633delCACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720751
chr6:51720783 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+23602C>T
c.10156+23602C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720783
chr6:51720783 GTGTA
GTGTA
 G
G
 2 a0009c0054t0001g0082
a0048c0023t0017g0081
a0009c0054t0001g0082
a0048c0023t0017g0081
 2 HG02622.hp1
HG02976.hp2
HG02622.hp1
HG02976.hp2
 intron_variant MODIFIER c.10156+23598_10156+
others(12): Show 
c.10156+23598_10156+23601delTACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720783
chr6:51720785 G
G
 A
A
 15 a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
others(12): Show 
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0048t0001g0047
a0006c0078t0005g0104
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
a0046c0067t0003g0112
 15 HG00741.hp1
HG01074.hp1
HG01255.hp1
others(12): Show 
HG00741.hp1
HG01074.hp1
HG01255.hp1
HG02451.hp2
HG02486.hp2
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.10156+23600C>T
c.10156+23600C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720785
chr6:51720785 G
G
 GTA
GTA
 23 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(20): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
 23 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(20): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02698.hp1
HG02717.hp2
HG03225.hp1
HG03239.hp2
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+23598_10156+
others(10): Show 
c.10156+23598_10156+23599dupTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720785
chr6:51720785 G
G
 GTGTGTGT
others(1): Show 
GTGTGTGTA
 2 a0001c0001t0001g0060
a0001c0094t0001g0131
a0001c0001t0001g0060
a0001c0094t0001g0131
 2 HG02809.hp1
HG02965.hp1
HG02809.hp1
HG02965.hp1
 intron_variant MODIFIER c.10156+23599_10156+
others(16): Show 
c.10156+23599_10156+23600insTACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720785
chr6:51720785 GTA
GTA
 G
G
 27 a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0009g0099
others(24): Show 
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0077t0002g0102
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0005c0039t0001g0030
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0016c0090t0001g0120
a0017c0089t0002g0116
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0037c0060t0005g0022
a0038c0062t0002g0065
 27 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(24): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01952.hp1
HG02015.hp1
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03540.hp1
HG03669.hp2
HG04184.hp1
NA18975.hp1
NA19003.hp2
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+23598_10156+
others(10): Show 
c.10156+23598_10156+23599delTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720785
chr6:51720785 GTATA
GTATA
 G
G
 5 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0019t0001g0118
others(2): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0019t0001g0118
a0002c0033t0002g0017
a0040c0081t0001g0124
 5 HG02040.hp2
NA18747.hp2
NA18964.hp1
others(2): Show 
HG02040.hp2
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA19054.hp1
 intron_variant MODIFIER c.10156+23596_10156+
others(12): Show 
c.10156+23596_10156+23599delTATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720785
chr6:51720787 A
A
 G
G
 24 a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0005t0002g0021
others(21): Show 
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0005t0002g0021
a0002c0021t0004g0130
a0002c0080t0002g0121
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0006c0011t0005g0134
a0006c0076t0005g0088
a0010c0026t0001g0013
a0012c0027t0002g0005
a0013c0095t0014g0122
a0021c0045t0001g0036
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0035c0086t0001g0109
a0041c0088t0006g0114
a0042c0035t0006g0059
 24 HG00423.hp2
HG01175.hp1
HG01433.hp2
others(21): Show 
HG00423.hp2
HG01175.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02970.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp1
HG04204.hp1
NA18971.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.10156+23598T>C
c.10156+23598T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720787
chr6:51720789 A
A
 G
G
 27 a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0009g0099
others(24): Show 
a0001c0002t0001g0083
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 27 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(24): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+23596T>C
c.10156+23596T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720789
chr6:51720849 T
T
 C
C
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.10156+23536A>G
c.10156+23536A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51720849
chr6:51721035 T
T
 C
C
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10156+23350A>G
c.10156+23350A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51721035
chr6:51721194 G
G
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10156+23191C>T
c.10156+23191C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51721194
chr6:51721254 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+23131G>A
c.10156+23131G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51721254
chr6:51721503 A
A
 T
T
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+22882T>A
c.10156+22882T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51721503
chr6:51721747 A
A
 C
C
 10 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(7): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
a0027c0069t0018g0092
 10 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(7): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.10156+22638T>G
c.10156+22638T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51721747
chr6:51721973 G
G
 A
A
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 108 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+22412C>T
c.10156+22412C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51721973
chr6:51721974 C
C
 T
T
 39 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(36): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
 39 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(36): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+22411G>A
c.10156+22411G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51721974
chr6:51722341 G
G
 A
A
 2 a0002c0004t0003g0126
a0004c0064t0003g0053
a0002c0004t0003g0126
a0004c0064t0003g0053
 2 HG03239.hp1
HG03669.hp2
HG03239.hp1
HG03669.hp2
 intron_variant MODIFIER c.10156+22044C>T
c.10156+22044C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51722341
chr6:51722381 C
C
 T
T
 1 a0003c0016t0001g0028
a0003c0016t0001g0028
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.10156+22004G>A
c.10156+22004G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51722381
chr6:51722382 G
G
 A
A
 29 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(26): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 29 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(26): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+22003C>T
c.10156+22003C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51722382
chr6:51722892 G
G
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10156+21493C>T
c.10156+21493C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51722892
chr6:51722922 T
T
 C
C
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+21463A>G
c.10156+21463A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51722922
chr6:51723554 T
T
 C
C
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+20831A>G
c.10156+20831A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51723554
chr6:51723663 G
G
 A
A
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+20722C>T
c.10156+20722C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51723663
chr6:51723739 A
A
 G
G
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+20646T>C
c.10156+20646T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51723739
chr6:51723819 A
A
 G
G
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.10156+20566T>C
c.10156+20566T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51723819
chr6:51724272 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.10156+20113T>C
c.10156+20113T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51724272
chr6:51724290 C
C
 G
G
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.10156+20095G>C
c.10156+20095G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51724290
chr6:51724291 A
A
 T
T
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0034t0001g0016
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0040c0081t0001g0124
 39 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(36): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+20094T>A
c.10156+20094T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51724291
chr6:51724454 C
C
 A
A
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0123
 3 HG02257.hp2
HG02717.hp2
HG03225.hp1
HG02257.hp2
HG02717.hp2
HG03225.hp1
 intron_variant MODIFIER c.10156+19931G>T
c.10156+19931G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51724454
chr6:51725002 C
C
 T
T
 4 a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
others(1): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 4 HG00741.hp1
HG02717.hp1
HG02896.hp1
others(1): Show 
HG00741.hp1
HG02717.hp1
HG02896.hp1
NA20300.hp1
 intron_variant MODIFIER c.10156+19383G>A
c.10156+19383G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51725002
chr6:51725280 T
T
 C
C
 7 a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
others(4): Show 
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0015c0025t0001g0031
a0020c0050t0001g0023
a0036c0074t0003g0108
 7 HG01106.hp2
HG01496.hp2
HG02683.hp2
others(4): Show 
HG01106.hp2
HG01496.hp2
HG02683.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA19001.hp2
 intron_variant MODIFIER c.10156+19105A>G
c.10156+19105A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51725280
chr6:51726238 C
C
 T
T
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+18147G>A
c.10156+18147G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51726238
chr6:51726274 C
C
 T
T
 1 a0003c0041t0001g0046
a0003c0041t0001g0046
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.10156+18111G>A
c.10156+18111G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51726274
chr6:51726362 T
T
 C
C
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+18023A>G
c.10156+18023A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51726362
chr6:51726624 C
C
 T
T
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.10156+17761G>A
c.10156+17761G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51726624
chr6:51726776 T
T
 A
A
 113 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(110): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 113 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(110): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+17609A>T
c.10156+17609A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51726776
chr6:51726790 G
G
 C
C
 123 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(120): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 123 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(120): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+17595C>G
c.10156+17595C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51726790
chr6:51726803 C
C
 A
A
 1 a0002c0080t0002g0121
a0002c0080t0002g0121
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.10156+17582G>T
c.10156+17582G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51726803
chr6:51727109 G
G
 C
C
 2 a0002c0020t0008g0110
a0002c0091t0007g0133
a0002c0020t0008g0110
a0002c0091t0007g0133
 2 HG03471.hp1
HG03540.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.10156+17276C>G
c.10156+17276C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51727109
chr6:51727379 C
C
 T
T
 1 a0040c0081t0001g0124
a0040c0081t0001g0124
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.10156+17006G>A
c.10156+17006G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51727379
chr6:51727681 C
C
 T
T
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+16704G>A
c.10156+16704G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51727681
chr6:51727697 C
C
 T
T
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+16688G>A
c.10156+16688G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51727697
chr6:51727737 C
C
 T
T
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.10156+16648G>A
c.10156+16648G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51727737
chr6:51727767 G
G
 A
A
 1 a0003c0015t0001g0041
a0003c0015t0001g0041
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.10156+16618C>T
c.10156+16618C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51727767
chr6:51728376 A
A
 C
C
 6 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(3): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
a0048c0023t0017g0081
 6 HG02280.hp2
HG02622.hp1
HG02818.hp2
others(3): Show 
HG02280.hp2
HG02622.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10156+16009T>G
c.10156+16009T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51728376
chr6:51728446 C
C
 T
T
 8 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(5): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 8 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(5): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA19240.hp1
 intron_variant MODIFIER c.10156+15939G>A
c.10156+15939G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51728446
chr6:51728564 A
A
 C
C
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10156+15821T>G
c.10156+15821T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51728564
chr6:51728627 G
G
 A
A
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0034t0001g0016
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0040c0081t0001g0124
 39 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(36): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+15758C>T
c.10156+15758C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51728627
chr6:51728650 C
C
 T
T
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0044c0075t0001g0119
 12 HG01261.hp1
HG03669.hp1
HG04184.hp2
others(9): Show 
HG01261.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.10156+15735G>A
c.10156+15735G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51728650
chr6:51729077 G
G
 A
A
 100 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(97): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 100 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(97): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+15308C>T
c.10156+15308C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51729077
chr6:51729117 T
T
 C
C
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+15268A>G
c.10156+15268A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51729117
chr6:51729670 G
G
 A
A
 3 a0002c0005t0002g0018
a0006c0011t0005g0063
a0012c0029t0002g0010
a0002c0005t0002g0018
a0006c0011t0005g0063
a0012c0029t0002g0010
 3 HG02055.hp2
HG02809.hp2
NA20752.hp1
HG02055.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+14715C>T
c.10156+14715C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51729670
chr6:51729693 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.10156+14692G>A
c.10156+14692G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51729693
chr6:51729806 C
C
 A
A
 1 a0003c0007t0001g0037
a0003c0007t0001g0037
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.10156+14579G>T
c.10156+14579G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51729806
chr6:51730030 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.10156+14355A>G
c.10156+14355A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730030
chr6:51730082 T
T
 C
C
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.10156+14303A>G
c.10156+14303A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730082
chr6:51730226 T
T
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+14159A>G
c.10156+14159A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730226
chr6:51730253 G
G
 A
A
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.10156+14132C>T
c.10156+14132C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730253
chr6:51730439 T
T
 G
G
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+13946A>C
c.10156+13946A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730439
chr6:51730527 C
C
 T
T
 8 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(5): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 8 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(5): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA19240.hp1
 intron_variant MODIFIER c.10156+13858G>A
c.10156+13858G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730527
chr6:51730667 G
G
 A
A
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+13718C>T
c.10156+13718C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730667
chr6:51730780 C
C
 T
T
 3 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0091t0007g0133
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0091t0007g0133
 3 HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03453.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.10156+13605G>A
c.10156+13605G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51730780
chr6:51731141 C
C
 T
T
 11 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(8): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0041c0088t0006g0114
a0042c0035t0006g0059
 11 HG01175.hp1
HG02055.hp1
HG02280.hp1
others(8): Show 
HG01175.hp1
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02970.hp1
HG02976.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
NA19240.hp1
 intron_variant MODIFIER c.10156+13244G>A
c.10156+13244G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51731141
chr6:51731359 T
T
 C
C
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+13026A>G
c.10156+13026A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51731359
chr6:51731771 CAGCTACA
others(3): Show 
CAGCTACATGT
 C
C
 1 a0011c0017t0005g0080
a0011c0017t0005g0080
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.10156+12604_10156+
others(18): Show 
c.10156+12604_10156+12613delACATGTAGCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51731771
chr6:51732760 C
C
 T
T
 97 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(94): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 97 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(94): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+11625G>A
c.10156+11625G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51732760
chr6:51732914 C
C
 T
T
 1 a0003c0015t0001g0041
a0003c0015t0001g0041
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.10156+11471G>A
c.10156+11471G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51732914
chr6:51733239 A
A
 G
G
 4 a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
others(1): Show 
a0002c0005t0002g0018
a0006c0011t0005g0063
a0009c0087t0001g0111
a0012c0029t0002g0010
 4 HG01243.hp1
HG02055.hp2
HG02809.hp2
others(1): Show 
HG01243.hp1
HG02055.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+11146T>C
c.10156+11146T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733239
chr6:51733316 G
G
 A
A
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+11069C>T
c.10156+11069C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733316
chr6:51733397 G
G
 A
A
 4 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
others(1): Show 
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0048c0023t0017g0081
 4 HG01175.hp1
HG02622.hp1
HG02970.hp1
others(1): Show 
HG01175.hp1
HG02622.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+10988C>T
c.10156+10988C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733397
chr6:51733535 C
C
 CA
CA
 102 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(99): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0011
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 102 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(99): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.10156+10849dupT
c.10156+10849dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733535
chr6:51733608 A
A
 G
G
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+10777T>C
c.10156+10777T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733608
chr6:51733839 G
G
 A
A
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+10546C>T
c.10156+10546C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733839
chr6:51733932 G
G
 A
A
 97 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(94): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 97 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(94): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+10453C>T
c.10156+10453C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733932
chr6:51733955 T
T
 C
C
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.10156+10430A>G
c.10156+10430A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51733955
chr6:51734074 T
T
 G
G
 6 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(3): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
a0048c0023t0017g0081
 6 HG02280.hp2
HG02622.hp1
HG02818.hp2
others(3): Show 
HG02280.hp2
HG02622.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10156+10311A>C
c.10156+10311A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734074
chr6:51734131 C
C
 G
G
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.10156+10254G>C
c.10156+10254G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734131
chr6:51734235 C
C
 T
T
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.10156+10150G>A
c.10156+10150G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734235
chr6:51734305 A
A
 T
T
 1 a0003c0013t0001g0054
a0003c0013t0001g0054
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.10156+10080T>A
c.10156+10080T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734305
chr6:51734569 C
C
 A
A
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.10156+9816G>T
c.10156+9816G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734569
chr6:51734771 C
C
 A
A
 123 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(120): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 123 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(120): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+9614G>T
c.10156+9614G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734771
chr6:51734786 T
T
 C
C
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.10156+9599A>G
c.10156+9599A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734786
chr6:51734812 G
G
 A
A
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.10156+9573C>T
c.10156+9573C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734812
chr6:51734993 T
T
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+9392A>G
c.10156+9392A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51734993
chr6:51735050 G
G
 A
A
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.10156+9335C>T
c.10156+9335C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735050
chr6:51735260 G
G
 T
T
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.10156+9125C>A
c.10156+9125C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735260
chr6:51735343 C
C
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.10156+9042G>A
c.10156+9042G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735343
chr6:51735403 A
A
 G
G
 2 a0002c0092t0004g0002
a0023c0044t0001g0044
a0002c0092t0004g0002
a0023c0044t0001g0044
 2 HG01952.hp1
NA19003.hp2
HG01952.hp1
NA19003.hp2
 intron_variant MODIFIER c.10156+8982T>C
c.10156+8982T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735403
chr6:51735557 T
T
 A
A
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+8828A>T
c.10156+8828A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735557
chr6:51735630 A
A
 T
T
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.10156+8755T>A
c.10156+8755T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735630
chr6:51735763 G
G
 A
A
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.10156+8622C>T
c.10156+8622C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735763
chr6:51735776 T
T
 A
A
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+8609A>T
c.10156+8609A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735776
chr6:51735952 A
A
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.10156+8433T>A
c.10156+8433T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51735952
chr6:51736101 C
C
 T
T
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+8284G>A
c.10156+8284G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51736101
chr6:51736177 G
G
 C
C
 1 a0009c0056t0001g0073
a0009c0056t0001g0073
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.10156+8208C>G
c.10156+8208C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51736177
chr6:51736326 T
T
 C
C
 100 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(97): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 100 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(97): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+8059A>G
c.10156+8059A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51736326
chr6:51736458 C
C
 A
A
 30 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(27): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 30 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(27): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+7927G>T
c.10156+7927G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51736458
chr6:51736930 C
C
 T
T
 4 a0002c0005t0002g0018
a0006c0011t0005g0063
a0012c0029t0002g0010
others(1): Show 
a0002c0005t0002g0018
a0006c0011t0005g0063
a0012c0029t0002g0010
a0041c0088t0006g0114
 4 HG02055.hp2
HG02280.hp1
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02280.hp1
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+7455G>A
c.10156+7455G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51736930
chr6:51736954 C
C
 T
T
 1 a0002c0033t0002g0017
a0002c0033t0002g0017
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.10156+7431G>A
c.10156+7431G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51736954
chr6:51737454 T
T
 C
C
 3 a0002c0005t0002g0018
a0006c0011t0005g0063
a0012c0029t0002g0010
a0002c0005t0002g0018
a0006c0011t0005g0063
a0012c0029t0002g0010
 3 HG02055.hp2
HG02809.hp2
NA20752.hp1
HG02055.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+6931A>G
c.10156+6931A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51737454
chr6:51737727 A
A
 AGT
AGT
 7 a0001c0019t0001g0118
a0016c0090t0001g0120
a0021c0045t0001g0036
others(4): Show 
a0001c0019t0001g0118
a0016c0090t0001g0120
a0021c0045t0001g0036
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 7 HG00741.hp1
HG01081.hp2
HG01433.hp2
others(4): Show 
HG00741.hp1
HG01081.hp2
HG01433.hp2
HG02717.hp1
HG02896.hp1
NA18964.hp1
NA20300.hp1
 intron_variant MODIFIER c.10156+6656_10156+6
others(8): Show 
c.10156+6656_10156+6657dupAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51737727
chr6:51737727 AGT
AGT
 A
A
 60 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(57): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0080t0002g0121
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0012c0027t0002g0005
a0014c0024t0001g0004
a0018c0052t0006g0086
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
a0029c0070t0008g0090
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 60 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(57): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03669.hp1
HG03704.hp2
HG04228.hp2
HG06807.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+6656_10156+6
others(8): Show 
c.10156+6656_10156+6657delAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51737727
chr6:51738069 G
G
 A
A
 29 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(26): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0027c0069t0018g0092
a0044c0075t0001g0119
a0046c0067t0003g0112
 29 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(26): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+6316C>T
c.10156+6316C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738069
chr6:51738077 C
C
 T
T
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+6308G>A
c.10156+6308G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738077
chr6:51738107 G
G
 A
A
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.10156+6278C>T
c.10156+6278C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738107
chr6:51738196 C
C
 T
T
 1 a0017c0089t0002g0116
a0017c0089t0002g0116
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.10156+6189G>A
c.10156+6189G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738196
chr6:51738437 C
C
 T
T
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+5948G>A
c.10156+5948G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738437
chr6:51738514 A
A
 T
T
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.10156+5871T>A
c.10156+5871T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738514
chr6:51738589 T
T
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.10156+5796A>C
c.10156+5796A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738589
chr6:51738667 T
T
 C
C
 1 a0004c0014t0004g0033
a0004c0014t0004g0033
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.10156+5718A>G
c.10156+5718A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738667
chr6:51738879 T
T
 G
G
 67 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(64): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 67 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(64): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+5506A>C
c.10156+5506A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738879
chr6:51738897 A
A
 G
G
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+5488T>C
c.10156+5488T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51738897
chr6:51739042 A
A
 T
T
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.10156+5343T>A
c.10156+5343T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51739042
chr6:51739115 AT
AT
 A
A
 5 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(2): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 5 HG02280.hp2
HG02818.hp2
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.10156+5269delA
c.10156+5269delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51739115
chr6:51739206 G
G
 T
T
 21 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(18): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0002c0005t0004g0076
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0043t0015g0057
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 21 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(18): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01261.hp1
HG02257.hp2
HG02717.hp2
HG03225.hp1
HG03239.hp2
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10156+5179C>A
c.10156+5179C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51739206
chr6:51739661 G
G
 C
C
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.10156+4724C>G
c.10156+4724C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51739661
chr6:51739665 C
C
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.10156+4720G>A
c.10156+4720G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51739665
chr6:51739801 G
G
 T
T
 1 a0002c0004t0003g0085
a0002c0004t0003g0085
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.10156+4584C>A
c.10156+4584C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51739801
chr6:51739807 G
G
 T
T
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.10156+4578C>A
c.10156+4578C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51739807
chr6:51740173 T
T
 A
A
 1 a0002c0021t0004g0130
a0002c0021t0004g0130
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.10156+4212A>T
c.10156+4212A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51740173
chr6:51740236 T
T
 G
G
 8 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(5): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 8 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(5): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA19240.hp1
 intron_variant MODIFIER c.10156+4149A>C
c.10156+4149A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51740236
chr6:51740383 T
T
 A
A
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.10156+4002A>T
c.10156+4002A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51740383
chr6:51740829 T
T
 C
C
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+3556A>G
c.10156+3556A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51740829
chr6:51740861 A
A
 G
G
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+3524T>C
c.10156+3524T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51740861
chr6:51740983 A
A
 G
G
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.10156+3402T>C
c.10156+3402T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51740983
chr6:51740986 C
C
 T
T
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.10156+3399G>A
c.10156+3399G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51740986
chr6:51741361 T
T
 A
A
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.10156+3024A>T
c.10156+3024A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51741361
chr6:51741516 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+2869T>C
c.10156+2869T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51741516
chr6:51741920 A
A
 T
T
 2 a0001c0093t0001g0127
a0005c0040t0001g0029
a0001c0093t0001g0127
a0005c0040t0001g0029
 2 HG01074.hp2
HG01433.hp1
HG01074.hp2
HG01433.hp1
 intron_variant MODIFIER c.10156+2465T>A
c.10156+2465T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51741920
chr6:51741981 T
T
 C
C
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.10156+2404A>G
c.10156+2404A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51741981
chr6:51742067 T
T
 A
A
 1 a0001c0061t0001g0064
a0001c0061t0001g0064
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.10156+2318A>T
c.10156+2318A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51742067
chr6:51742973 C
C
 G
G
 42 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(39): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 42 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02486.hp2
HG02683.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.10156+1412G>C
c.10156+1412G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51742973
chr6:51743019 G
G
 C
C
 4 a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
others(1): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 4 HG00741.hp1
HG02717.hp1
HG02896.hp1
others(1): Show 
HG00741.hp1
HG02717.hp1
HG02896.hp1
NA20300.hp1
 intron_variant MODIFIER c.10156+1366C>G
c.10156+1366C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51743019
chr6:51743202 G
G
 C
C
 18 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(15): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0012t0001g0032
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0012c0027t0002g0005
a0016c0090t0001g0120
a0023c0044t0001g0044
 18 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(15): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01952.hp1
HG02040.hp2
HG03239.hp1
HG03669.hp2
HG04184.hp1
NA18747.hp2
NA18964.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10156+1183C>G
c.10156+1183C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51743202
chr6:51743273 T
T
 A
A
 6 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(3): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
a0027c0069t0018g0092
 6 HG02622.hp2
HG02897.hp2
HG02922.hp2
others(3): Show 
HG02622.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.10156+1112A>T
c.10156+1112A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51743273
chr6:51743334 A
A
 G
G
 18 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(15): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0126
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0012t0001g0032
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0012c0027t0002g0005
a0016c0090t0001g0120
a0023c0044t0001g0044
 18 HG00423.hp2
HG00738.hp2
HG01081.hp2
others(15): Show 
HG00423.hp2
HG00738.hp2
HG01081.hp2
HG01952.hp1
HG02040.hp2
HG03239.hp1
HG03669.hp2
HG04184.hp1
NA18747.hp2
NA18964.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
 intron_variant MODIFIER c.10156+1051T>C
c.10156+1051T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51743334
chr6:51743948 C
C
 G
G
 25 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(22): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 25 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(22): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02698.hp1
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.10156+437G>C
c.10156+437G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51743948
chr6:51744183 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+202C>T
c.10156+202C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51744183
chr6:51744217 A
A
 ATT
ATT
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.10156+167_10156+16
others(6): Show 
c.10156+167_10156+168insAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 60/66 chr6 51744217
chr6:51744912 T
T
 C
C
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 10 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(7): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.9999-370A>G
c.9999-370A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51744912
chr6:51744913 T
T
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.9999-371A>C
c.9999-371A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51744913
chr6:51745237 T
T
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.9999-695A>G
c.9999-695A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51745237
chr6:51745450 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.9999-908C>T
c.9999-908C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51745450
chr6:51745535 A
A
 T
T
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.9999-993T>A
c.9999-993T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51745535
chr6:51745842 G
G
 A
A
 10 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(7): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
a0027c0069t0018g0092
 10 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(7): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.9998+879C>T
c.9998+879C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51745842
chr6:51745895 G
G
 A
A
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.9998+826C>T
c.9998+826C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51745895
chr6:51746001 GT
GT
 G
G
 26 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(23): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0044c0075t0001g0119
a0046c0067t0003g0112
 26 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(23): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02698.hp1
HG02809.hp1
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.9998+719delA
c.9998+719delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51746001
chr6:51746030 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.9998+691G>A
c.9998+691G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51746030
chr6:51746241 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.9998+480T>C
c.9998+480T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51746241
chr6:51746336 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.9998+385T>C
c.9998+385T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51746336
chr6:51746546 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.9998+175T>C
c.9998+175T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51746546
chr6:51746548 G
G
 T
T
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.9998+173C>A
c.9998+173C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51746548
chr6:51746672 T
T
 C
C
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0019c0049t0001g0035
a0022c0042t0002g0051
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 66 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(63): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.9998+49A>G
c.9998+49A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 59/66 chr6 51746672
chr6:51747252 C
C
 T
T
 2 a0002c0004t0010g0101
a0003c0007t0001g0049
a0002c0004t0010g0101
a0003c0007t0001g0049
 2 HG01261.hp2
HG02683.hp1
HG01261.hp2
HG02683.hp1
 intron_variant MODIFIER c.9830-363G>A
c.9830-363G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/66 chr6 51747252
chr6:51747338 TTTCAA
TTTCAA
 T
T
 5 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
others(2): Show 
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
a0048c0023t0017g0081
 5 HG02280.hp2
HG02622.hp1
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02622.hp1
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.9829+444_9829+448d
others(7): Show 
c.9829+444_9829+448delTTGAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/66 chr6 51747338
chr6:51747438 CT
CT
 C
C
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.9829+348delA
c.9829+348delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/66 chr6 51747438
chr6:51747513 T
T
 C
C
 1 a0002c0020t0003g0084
a0002c0020t0003g0084
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.9829+274A>G
c.9829+274A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/66 chr6 51747513
chr6:51747560 T
T
 C
C
 8 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(5): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 8 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(5): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA19240.hp1
 intron_variant MODIFIER c.9829+227A>G
c.9829+227A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/66 chr6 51747560
chr6:51747777 A
A
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.9829+10T>G
c.9829+10T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 58/66 chr6 51747777
chr6:51748678 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8951-13C>T
c.8951-13C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51748678
chr6:51748768 G
G
 T
T
 1 a0001c0010t0001g0078
a0001c0010t0001g0078
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.8951-103C>A
c.8951-103C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51748768
chr6:51748827 T
T
 C
C
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.8951-162A>G
c.8951-162A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51748827
chr6:51749844 G
G
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8951-1179C>G
c.8951-1179C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51749844
chr6:51750041 G
G
 A
A
 3 a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
 3 HG01175.hp1
HG02970.hp1
HG03471.hp2
HG01175.hp1
HG02970.hp1
HG03471.hp2
 intron_variant MODIFIER c.8951-1376C>T
c.8951-1376C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750041
chr6:51750096 G
G
 C
C
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.8951-1431C>G
c.8951-1431C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750096
chr6:51750234 G
G
 A
A
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.8951-1569C>T
c.8951-1569C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750234
chr6:51750560 C
C
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.8951-1895G>A
c.8951-1895G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750560
chr6:51750653 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8951-1988C>T
c.8951-1988C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750653
chr6:51750747 G
G
 T
T
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.8951-2082C>A
c.8951-2082C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750747
chr6:51750786 A
A
 AT
AT
 11 a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0020t0008g0110
others(8): Show 
a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
 11 HG00741.hp1
HG01255.hp1
HG02717.hp1
others(8): Show 
HG00741.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.8951-2122dupA
c.8951-2122dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750786
chr6:51750821 C
C
 G
G
 100 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(97): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 100 HG00423.hp2
HG00738.hp2
HG00741.hp1
others(97): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8951-2156G>C
c.8951-2156G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51750821
chr6:51751052 A
A
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8950+2149T>A
c.8950+2149T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51751052
chr6:51751302 G
G
 T
T
 10 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(7): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
a0027c0069t0018g0092
 10 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(7): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.8950+1899C>A
c.8950+1899C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51751302
chr6:51751438 G
G
 T
T
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.8950+1763C>A
c.8950+1763C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51751438
chr6:51751909 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8950+1292T>C
c.8950+1292T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51751909
chr6:51751929 T
T
 C
C
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.8950+1272A>G
c.8950+1272A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51751929
chr6:51752301 G
G
 A
A
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.8950+900C>T
c.8950+900C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752301
chr6:51752468 C
C
 A
A
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.8950+733G>T
c.8950+733G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752468
chr6:51752479 C
C
 T
T
 5 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(2): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0009c0087t0001g0111
a0012c0029t0002g0010
 5 HG01243.hp1
HG02055.hp2
HG02486.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8950+722G>A
c.8950+722G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752479
chr6:51752516 A
A
 C
C
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.8950+685T>G
c.8950+685T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752516
chr6:51752566 G
G
 A
A
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.8950+635C>T
c.8950+635C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752566
chr6:51752783 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8950+418T>C
c.8950+418T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752783
chr6:51752814 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8950+387C>T
c.8950+387C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752814
chr6:51752879 C
C
 T
T
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8950+322G>A
c.8950+322G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51752879
chr6:51753002 A
A
 G
G
 132 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(129): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 132 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(129): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8950+199T>C
c.8950+199T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51753002
chr6:51753134 G
G
 A
A
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.8950+67C>T
c.8950+67C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51753134
chr6:51753157 T
T
 C
C
 6 a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
others(3): Show 
a0005c0039t0001g0030
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
a0048c0023t0017g0081
 6 HG02280.hp2
HG02622.hp1
HG02818.hp2
others(3): Show 
HG02280.hp2
HG02622.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.8950+44A>G
c.8950+44A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 57/66 chr6 51753157
chr6:51753371 GT
GT
 G
G
 17 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(14): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0002c0005t0002g0021
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0009c0056t0001g0073
a0030c0055t0002g0072
a0041c0088t0006g0114
 17 HG02040.hp1
HG02055.hp1
HG02280.hp1
others(14): Show 
HG02040.hp1
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
NA18964.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.8798-19delA
c.8798-19delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753371
chr6:51753372 T
T
 G
G
 105 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(102): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 105 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(102): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8798-19A>C
c.8798-19A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753372
chr6:51753376 A
A
 G
G
 17 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(14): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0002c0005t0002g0021
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0009c0056t0001g0073
a0030c0055t0002g0072
a0041c0088t0006g0114
 17 HG02040.hp1
HG02055.hp1
HG02280.hp1
others(14): Show 
HG02040.hp1
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
NA18964.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.8798-23T>C
c.8798-23T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753376
chr6:51753714 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8798-361A>G
c.8798-361A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753714
chr6:51753801 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8798-448C>T
c.8798-448C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753801
chr6:51753883 G
G
 A
A
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8798-530C>T
c.8798-530C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753883
chr6:51753899 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8798-546C>T
c.8798-546C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753899
chr6:51753949 T
T
 C
C
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.8798-596A>G
c.8798-596A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51753949
chr6:51754072 A
A
 C
C
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 39 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(36): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02486.hp2
HG02683.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.8797+712T>G
c.8797+712T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51754072
chr6:51754240 T
T
 C
C
 17 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(14): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0002c0005t0002g0021
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0009c0056t0001g0073
a0030c0055t0002g0072
a0041c0088t0006g0114
 17 HG02040.hp1
HG02055.hp1
HG02280.hp1
others(14): Show 
HG02040.hp1
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
NA18964.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.8797+544A>G
c.8797+544A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51754240
chr6:51754646 G
G
 A
A
 16 a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
others(13): Show 
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 16 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(13): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG06807.hp2
NA18971.hp2
NA18989.hp2
 intron_variant MODIFIER c.8797+138C>T
c.8797+138C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 56/66 chr6 51754646
chr6:51754962 T
T
 C
C
 17 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(14): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0002c0005t0002g0021
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0009c0056t0001g0073
a0030c0055t0002g0072
a0041c0088t0006g0114
 17 HG02040.hp1
HG02055.hp1
HG02280.hp1
others(14): Show 
HG02040.hp1
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
NA18964.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.8643-24A>G
c.8643-24A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51754962
chr6:51755010 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-72C>T
c.8643-72C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755010
chr6:51755070 A
A
 T
T
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.8643-132T>A
c.8643-132T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755070
chr6:51755092 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-154C>T
c.8643-154C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755092
chr6:51755123 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-185A>G
c.8643-185A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755123
chr6:51755142 A
A
 G
G
 3 a0006c0078t0005g0104
a0009c0087t0001g0111
a0038c0062t0002g0065
a0006c0078t0005g0104
a0009c0087t0001g0111
a0038c0062t0002g0065
 3 HG01243.hp1
HG02451.hp2
HG03041.hp2
HG01243.hp1
HG02451.hp2
HG03041.hp2
 intron_variant MODIFIER c.8643-204T>C
c.8643-204T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755142
chr6:51755147 T
T
 C
C
 2 a0008c0018t0020g0074
a0042c0035t0006g0059
a0008c0018t0020g0074
a0042c0035t0006g0059
 2 HG02970.hp1
HG03098.hp1
HG02970.hp1
HG03098.hp1
 intron_variant MODIFIER c.8643-209A>G
c.8643-209A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755147
chr6:51755174 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-236T>C
c.8643-236T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755174
chr6:51755276 A
A
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-338T>G
c.8643-338T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755276
chr6:51755332 C
C
 T
T
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.8643-394G>A
c.8643-394G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755332
chr6:51755457 G
G
 A
A
 8 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(5): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 8 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(5): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
NA19240.hp1
 intron_variant MODIFIER c.8643-519C>T
c.8643-519C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755457
chr6:51755857 A
A
 T
T
 9 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(6): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
 9 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(6): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.8643-919T>A
c.8643-919T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755857
chr6:51755878 C
C
 T
T
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.8643-940G>A
c.8643-940G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51755878
chr6:51756060 C
C
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-1122G>T
c.8643-1122G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756060
chr6:51756119 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-1181G>A
c.8643-1181G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756119
chr6:51756120 G
G
 A
A
 11 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(8): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 11 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(8): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.8643-1182C>T
c.8643-1182C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756120
chr6:51756235 T
T
 C
C
 1 a0001c0082t0001g0105
a0001c0082t0001g0105
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.8643-1297A>G
c.8643-1297A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756235
chr6:51756441 T
T
 C
C
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8643-1503A>G
c.8643-1503A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756441
chr6:51756618 G
G
 A
A
 92 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(89): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 92 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(89): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.8643-1680C>T
c.8643-1680C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756618
chr6:51756853 C
C
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-1915G>T
c.8643-1915G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756853
chr6:51756912 G
G
 A
A
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8643-1974C>T
c.8643-1974C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756912
chr6:51756963 G
G
 A
A
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.8643-2025C>T
c.8643-2025C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756963
chr6:51756968 C
C
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-2030G>T
c.8643-2030G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51756968
chr6:51757046 G
G
 A
A
 4 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
others(1): Show 
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0048c0023t0017g0081
 4 HG02280.hp2
HG02622.hp1
HG02922.hp1
others(1): Show 
HG02280.hp2
HG02622.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8643-2108C>T
c.8643-2108C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51757046
chr6:51757241 G
G
 A
A
 92 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(89): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 92 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(89): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.8643-2303C>T
c.8643-2303C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51757241
chr6:51757651 T
T
 C
C
 75 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(72): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0045c0084t0006g0087
 75 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(72): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.8643-2713A>G
c.8643-2713A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51757651
chr6:51757765 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-2827T>C
c.8643-2827T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51757765
chr6:51757819 T
T
 C
C
 4 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(1): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 4 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(1): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.8643-2881A>G
c.8643-2881A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51757819
chr6:51757921 G
G
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-2983C>A
c.8643-2983C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51757921
chr6:51758012 A
A
 AAGAGAGA
others(21): Show 
AAGAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.8643-3075_8643-307
others(32): Show 
c.8643-3075_8643-3074insCTCTCTCTCTCTCTCTCTCTCTCTCT
CT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758012
chr6:51758013 AAAGAGAG
others(6): Show 
AAAGAGAGAGAGAG
 A
A
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8643-3088_8643-307
others(17): Show 
c.8643-3088_8643-3076delCTCTCTCTCTCTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758013
chr6:51758014 A
A
 AAG
AAG
 16 a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0130
others(13): Show 
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0087t0001g0111
a0018c0052t0006g0086
a0019c0049t0001g0035
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
 16 HG00423.hp1
HG01074.hp2
HG01106.hp1
others(13): Show 
HG00423.hp1
HG01074.hp2
HG01106.hp1
HG01243.hp1
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02486.hp1
HG02698.hp1
HG03098.hp2
HG03139.hp1
HG06807.hp1
NA18989.hp2
NA19240.hp1
 intron_variant MODIFIER c.8643-3078_8643-307
others(6): Show 
c.8643-3078_8643-3077dupCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAG
AAGAG
 10 a0002c0021t0004g0128
a0004c0008t0003g0003
a0004c0008t0004g0045
others(7): Show 
a0002c0021t0004g0128
a0004c0008t0003g0003
a0004c0008t0004g0045
a0008c0053t0016g0069
a0009c0054t0001g0082
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
 10 HG00738.hp1
HG01496.hp2
HG02683.hp2
others(7): Show 
HG00738.hp1
HG01496.hp2
HG02683.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03239.hp2
HG06807.hp2
NA18747.hp1
NA19001.hp2
 intron_variant MODIFIER c.8643-3080_8643-307
others(8): Show 
c.8643-3080_8643-3077dupCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAG
AAGAGAG
 5 a0001c0001t0001g0060
a0001c0022t0001g0132
a0001c0083t0001g0125
others(2): Show 
a0001c0001t0001g0060
a0001c0022t0001g0132
a0001c0083t0001g0125
a0004c0047t0019g0015
a0007c0003t0001g0011
 5 HG02257.hp1
HG02965.hp1
NA18971.hp2
others(2): Show 
HG02257.hp1
HG02965.hp1
NA18971.hp2
NA18989.hp1
NA20129.hp1
 intron_variant MODIFIER c.8643-3082_8643-307
others(10): Show 
c.8643-3082_8643-3077dupCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(1): Show 
AAGAGAGAG
 2 a0032c0058t0001g0070
a0038c0062t0002g0065
a0032c0058t0001g0070
a0038c0062t0002g0065
 2 HG03041.hp2
HG03516.hp1
HG03041.hp2
HG03516.hp1
 intron_variant MODIFIER c.8643-3084_8643-307
others(12): Show 
c.8643-3084_8643-3077dupCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(3): Show 
AAGAGAGAGAG
 8 a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
others(5): Show 
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0015t0001g0041
a0007c0003t0001g0012
a0045c0084t0006g0087
a0046c0067t0003g0112
 8 HG01074.hp1
HG02809.hp1
HG03041.hp1
others(5): Show 
HG01074.hp1
HG02809.hp1
HG03041.hp1
HG03453.hp1
HG04204.hp2
HG04228.hp2
NA18975.hp2
NA20300.hp2
 intron_variant MODIFIER c.8643-3086_8643-307
others(14): Show 
c.8643-3086_8643-3077dupCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(5): Show 
AAGAGAGAGAGAG
 2 a0005c0039t0001g0030
a0007c0003t0001g0008
a0005c0039t0001g0030
a0007c0003t0001g0008
 2 HG02818.hp2
NA19090.hp1
HG02818.hp2
NA19090.hp1
 intron_variant MODIFIER c.8643-3088_8643-307
others(16): Show 
c.8643-3088_8643-3077dupCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(7): Show 
AAGAGAGAGAGAGAG
 2 a0001c0009t0001g0106
a0044c0075t0001g0119
a0001c0009t0001g0106
a0044c0075t0001g0119
 2 HG01261.hp1
NA19007.hp2
HG01261.hp1
NA19007.hp2
 intron_variant MODIFIER c.8643-3090_8643-307
others(18): Show 
c.8643-3090_8643-3077dupCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(9): Show 
AAGAGAGAGAGAGAGAG
 2 a0001c0001t0001g0061
a0010c0030t0001g0007
a0001c0001t0001g0061
a0010c0030t0001g0007
 2 HG02451.hp1
HG04184.hp2
HG02451.hp1
HG04184.hp2
 intron_variant MODIFIER c.8643-3092_8643-307
others(20): Show 
c.8643-3092_8643-3077dupCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(11): Show 
AAGAGAGAGAGAGAGAGAG
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.8643-3094_8643-307
others(22): Show 
c.8643-3094_8643-3077dupCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(15): Show 
AAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.8643-3098_8643-307
others(26): Show 
c.8643-3098_8643-3077dupCTCTCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(17): Show 
AAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.8643-3100_8643-307
others(28): Show 
c.8643-3100_8643-3077dupCTCTCTCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(19): Show 
AAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.8643-3102_8643-307
others(30): Show 
c.8643-3102_8643-3077dupCTCTCTCTCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AAGAGAGA
others(21): Show 
AAGAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.8643-3104_8643-307
others(32): Show 
c.8643-3104_8643-3077dupCTCTCTCTCTCTCTCTCTCTCTCTCT
CT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AGAGAGAG
others(8): Show 
AGAGAGAGAGAGAGAG
 2 a0001c0009t0001g0123
a0007c0003t0001g0006
a0001c0009t0001g0123
a0007c0003t0001g0006
 2 HG02717.hp2
NA19003.hp1
HG02717.hp2
NA19003.hp1
 intron_variant MODIFIER c.8643-3077_8643-307
others(19): Show 
c.8643-3077_8643-3076insCTCTCTCTCTCTCTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 AGAGAGAG
others(10): Show 
AGAGAGAGAGAGAGAGAG
 1 a0003c0041t0001g0046
a0003c0041t0001g0046
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.8643-3077_8643-307
others(21): Show 
c.8643-3077_8643-3076insCTCTCTCTCTCTCTCTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 A
A
 G
G
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.8643-3076T>C
c.8643-3076T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 AAGAG
AAGAG
 A
A
 7 a0001c0002t0001g0117
a0002c0065t0007g0068
a0011c0017t0005g0071
others(4): Show 
a0001c0002t0001g0117
a0002c0065t0007g0068
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0037c0060t0005g0022
a0042c0035t0006g0059
 7 HG00738.hp2
HG01243.hp2
HG02280.hp2
others(4): Show 
HG00738.hp2
HG01243.hp2
HG02280.hp2
HG02922.hp1
HG02970.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.8643-3080_8643-307
others(8): Show 
c.8643-3080_8643-3077delCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 AAGAGAG
AAGAGAG
 A
A
 9 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(6): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0005t0002g0021
a0003c0013t0001g0054
a0004c0006t0002g0048
a0008c0018t0020g0074
a0009c0056t0001g0073
a0023c0044t0001g0044
 9 HG01952.hp1
HG02055.hp1
HG02622.hp2
others(6): Show 
HG01952.hp1
HG02055.hp1
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03486.hp1
HG03486.hp2
NA19240.hp2
 intron_variant MODIFIER c.8643-3082_8643-307
others(10): Show 
c.8643-3082_8643-3077delCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758014 AAGAGAGA
others(1): Show 
AAGAGAGAG
 A
A
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0034t0001g0016
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 39 HG00423.hp2
HG00741.hp2
HG01081.hp1
others(36): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8643-3084_8643-307
others(12): Show 
c.8643-3084_8643-3077delCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758014
chr6:51758040 G
G
 C
C
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.8643-3102C>G
c.8643-3102C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758040
chr6:51758040 G
G
 GAC
GAC
 10 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0079t0007g0089
others(7): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 10 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(7): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.8643-3103_8643-310
others(6): Show 
c.8643-3103_8643-3102insGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758040
chr6:51758052 G
G
 A
A
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8643-3114C>T
c.8643-3114C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758052
chr6:51758053 A
A
 AGAGAGAG
others(18): Show 
AGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0001c0022t0001g0129
a0001c0022t0001g0129
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.8643-3116_8643-311
others(29): Show 
c.8643-3116_8643-3115insCTCTCTCTCTCTCTCTCTCTCTCTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758053
chr6:51758312 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-3374A>G
c.8643-3374A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758312
chr6:51758481 C
C
 T
T
 1 a0010c0026t0001g0013
a0010c0026t0001g0013
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.8643-3543G>A
c.8643-3543G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758481
chr6:51758557 G
G
 T
T
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.8643-3619C>A
c.8643-3619C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758557
chr6:51758558 A
A
 G
G
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.8643-3620T>C
c.8643-3620T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758558
chr6:51758573 G
G
 A
A
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8643-3635C>T
c.8643-3635C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51758573
chr6:51759066 T
T
 C
C
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 39 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(36): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02486.hp2
HG02683.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.8643-4128A>G
c.8643-4128A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759066
chr6:51759309 C
C
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.8643-4371G>T
c.8643-4371G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759309
chr6:51759546 G
G
 GA
GA
 4 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
others(1): Show 
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0048c0023t0017g0081
 4 HG02280.hp2
HG02622.hp1
HG02922.hp1
others(1): Show 
HG02280.hp2
HG02622.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8643-4609dupT
c.8643-4609dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759546
chr6:51759593 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-4655C>T
c.8643-4655C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759593
chr6:51759632 G
G
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8643-4694C>A
c.8643-4694C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759632
chr6:51759655 CT
CT
 C
C
 11 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(8): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 11 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(8): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.8643-4718delA
c.8643-4718delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759655
chr6:51759749 C
C
 A
A
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8643-4811G>T
c.8643-4811G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759749
chr6:51759858 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-4920G>A
c.8643-4920G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759858
chr6:51759860 C
C
 G
G
 16 a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
others(13): Show 
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 16 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(13): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG06807.hp2
NA18971.hp2
NA18989.hp2
 intron_variant MODIFIER c.8643-4922G>C
c.8643-4922G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51759860
chr6:51760072 TG
TG
 T
T
 4 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
others(1): Show 
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0048c0023t0017g0081
 4 HG02280.hp2
HG02622.hp1
HG02922.hp1
others(1): Show 
HG02280.hp2
HG02622.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8643-5135delC
c.8643-5135delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760072
chr6:51760074 A
A
 T
T
 4 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
others(1): Show 
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0048c0023t0017g0081
 4 HG02280.hp2
HG02622.hp1
HG02922.hp1
others(1): Show 
HG02280.hp2
HG02622.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8643-5136T>A
c.8643-5136T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760074
chr6:51760117 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-5179C>T
c.8643-5179C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760117
chr6:51760321 T
T
 C
C
 2 a0008c0018t0020g0074
a0042c0035t0006g0059
a0008c0018t0020g0074
a0042c0035t0006g0059
 2 HG02970.hp1
HG03098.hp1
HG02970.hp1
HG03098.hp1
 intron_variant MODIFIER c.8643-5383A>G
c.8643-5383A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760321
chr6:51760440 T
T
 A
A
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.8643-5502A>T
c.8643-5502A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760440
chr6:51760693 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-5755G>A
c.8643-5755G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760693
chr6:51760920 C
C
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-5982G>C
c.8643-5982G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760920
chr6:51760947 G
G
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-6009C>G
c.8643-6009C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51760947
chr6:51761127 T
T
 G
G
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.8643-6189A>C
c.8643-6189A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761127
chr6:51761408 G
G
 C
C
 9 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(6): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
 9 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(6): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.8643-6470C>G
c.8643-6470C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761408
chr6:51761442 G
G
 C
C
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.8643-6504C>G
c.8643-6504C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761442
chr6:51761697 G
G
 C
C
 92 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(89): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 92 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(89): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.8643-6759C>G
c.8643-6759C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761697
chr6:51761715 T
T
 C
C
 6 a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
others(3): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.8643-6777A>G
c.8643-6777A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761715
chr6:51761836 GA
GA
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-6899delT
c.8643-6899delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761836
chr6:51761924 C
C
 G
G
 2 a0008c0018t0020g0074
a0042c0035t0006g0059
a0008c0018t0020g0074
a0042c0035t0006g0059
 2 HG02970.hp1
HG03098.hp1
HG02970.hp1
HG03098.hp1
 intron_variant MODIFIER c.8643-6986G>C
c.8643-6986G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761924
chr6:51761925 T
T
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-6987A>C
c.8643-6987A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761925
chr6:51761947 A
A
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7009T>A
c.8643-7009T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761947
chr6:51761999 A
A
 T
T
 1 a0001c0093t0001g0127
a0001c0093t0001g0127
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.8643-7061T>A
c.8643-7061T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51761999
chr6:51762035 T
T
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7097A>C
c.8643-7097A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762035
chr6:51762101 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7163G>A
c.8643-7163G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762101
chr6:51762269 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7331A>G
c.8643-7331A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762269
chr6:51762363 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7425A>G
c.8643-7425A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762363
chr6:51762504 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7566T>C
c.8643-7566T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762504
chr6:51762534 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7596T>C
c.8643-7596T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762534
chr6:51762577 T
T
 C
C
 1 a0040c0081t0001g0124
a0040c0081t0001g0124
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.8643-7639A>G
c.8643-7639A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762577
chr6:51762619 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7681G>A
c.8643-7681G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762619
chr6:51762623 G
G
 A
A
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.8643-7685C>T
c.8643-7685C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762623
chr6:51762648 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7710G>A
c.8643-7710G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762648
chr6:51762648 CAT
CAT
 C
C
 60 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(57): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0015t0001g0041
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0019c0049t0001g0035
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 60 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(57): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG02055.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8643-7712_8643-771
others(6): Show 
c.8643-7712_8643-7711delAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762648
chr6:51762661 A
A
 ATT
ATT
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7724_8643-772
others(6): Show 
c.8643-7724_8643-7723insAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762661
chr6:51762663 A
A
 T
T
 40 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(37): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 40 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(37): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02622.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7725T>A
c.8643-7725T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762663
chr6:51762665 A
A
 T
T
 40 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(37): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 40 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(37): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02622.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7727T>A
c.8643-7727T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762665
chr6:51762679 A
A
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7741T>A
c.8643-7741T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762679
chr6:51762797 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7859C>T
c.8643-7859C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762797
chr6:51762859 C
C
 T
T
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.8643-7921G>A
c.8643-7921G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762859
chr6:51762917 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-7979A>G
c.8643-7979A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762917
chr6:51762972 A
A
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8034T>A
c.8643-8034T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762972
chr6:51762987 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8049C>T
c.8643-8049C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51762987
chr6:51763023 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.8643-8085A>G
c.8643-8085A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763023
chr6:51763082 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8144G>A
c.8643-8144G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763082
chr6:51763296 T
T
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8358A>C
c.8643-8358A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763296
chr6:51763310 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8643-8372T>C
c.8643-8372T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763310
chr6:51763421 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8483T>C
c.8643-8483T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763421
chr6:51763648 C
C
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8710G>T
c.8643-8710G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763648
chr6:51763707 T
T
 G
G
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.8643-8769A>C
c.8643-8769A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763707
chr6:51763710 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8772C>T
c.8643-8772C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763710
chr6:51763727 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8789A>G
c.8643-8789A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763727
chr6:51763811 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8643-8873T>C
c.8643-8873T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763811
chr6:51763848 T
T
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8854A>C
c.8642+8854A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763848
chr6:51763874 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8828A>G
c.8642+8828A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763874
chr6:51763948 CT
CT
 C
C
 24 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(21): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0034t0001g0016
a0002c0005t0002g0021
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0018c0052t0006g0086
a0030c0055t0002g0072
a0038c0062t0002g0065
a0041c0088t0006g0114
 24 HG01071.hp1
HG01071.hp2
HG01243.hp1
others(21): Show 
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG02040.hp1
HG02055.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
NA18964.hp2
NA18975.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.8642+8753delA
c.8642+8753delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763948
chr6:51763962 T
T
 TA
TA
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8739dupT
c.8642+8739dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51763962
chr6:51764057 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8645T>C
c.8642+8645T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764057
chr6:51764084 A
A
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.8642+8618T>C
c.8642+8618T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764084
chr6:51764104 C
C
 T
T
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8642+8598G>A
c.8642+8598G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764104
chr6:51764105 C
C
 G
G
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0043t0015g0057
a0005c0037t0001g0038
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0014c0024t0001g0004
a0019c0049t0001g0035
a0027c0069t0018g0092
a0032c0058t0001g0070
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01261.hp1
HG02257.hp2
HG02451.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8642+8597G>C
c.8642+8597G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764105
chr6:51764107 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8595G>A
c.8642+8595G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764107
chr6:51764171 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8531C>T
c.8642+8531C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764171
chr6:51764235 A
A
 C
C
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 39 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(36): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02486.hp2
HG02683.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.8642+8467T>G
c.8642+8467T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764235
chr6:51764253 A
A
 G
G
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8449T>C
c.8642+8449T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764253
chr6:51764327 CA
CA
 C
C
 9 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(6): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0034t0001g0016
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
a0009c0056t0001g0073
 9 HG02040.hp1
HG02622.hp2
HG02698.hp2
others(6): Show 
HG02040.hp1
HG02622.hp2
HG02698.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
HG03704.hp2
NA18964.hp2
NA19240.hp2
 intron_variant MODIFIER c.8642+8374delT
c.8642+8374delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764327
chr6:51764417 G
G
 A
A
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8285C>T
c.8642+8285C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764417
chr6:51764523 A
A
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8179T>A
c.8642+8179T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764523
chr6:51764529 A
A
 G
G
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.8642+8173T>C
c.8642+8173T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764529
chr6:51764544 C
C
 T
T
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.8642+8158G>A
c.8642+8158G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764544
chr6:51764562 G
G
 C
C
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.8642+8140C>G
c.8642+8140C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764562
chr6:51764608 T
T
 C
C
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8094A>G
c.8642+8094A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764608
chr6:51764614 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+8088G>A
c.8642+8088G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764614
chr6:51764718 T
T
 C
C
 2 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0037
a0003c0007t0001g0043
 2 HG00741.hp2
HG01175.hp2
HG00741.hp2
HG01175.hp2
 intron_variant MODIFIER c.8642+7984A>G
c.8642+7984A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764718
chr6:51764911 A
A
 G
G
 4 a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0001c0034t0001g0016
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0008t0011g0026
 4 HG02040.hp1
HG02698.hp2
HG03704.hp2
others(1): Show 
HG02040.hp1
HG02698.hp2
HG03704.hp2
NA18964.hp2
 intron_variant MODIFIER c.8642+7791T>C
c.8642+7791T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764911
chr6:51764922 A
A
 G
G
 1 a0003c0015t0001g0041
a0003c0015t0001g0041
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.8642+7780T>C
c.8642+7780T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764922
chr6:51764971 C
C
 T
T
 35 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(32): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+7731G>A
c.8642+7731G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51764971
chr6:51765252 TTCTGGCC
others(3): Show 
TTCTGGCCTCA
 T
T
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.8642+7440_8642+744
others(14): Show 
c.8642+7440_8642+7449delTGAGGCCAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765252
chr6:51765267 G
G
 A
A
 16 a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
others(13): Show 
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 16 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(13): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG06807.hp2
NA18971.hp2
NA18989.hp2
 intron_variant MODIFIER c.8642+7435C>T
c.8642+7435C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765267
chr6:51765419 T
T
 A
A
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.8642+7283A>T
c.8642+7283A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765419
chr6:51765421 C
C
 G
G
 1 a0002c0021t0004g0130
a0002c0021t0004g0130
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.8642+7281G>C
c.8642+7281G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765421
chr6:51765475 G
G
 C
C
 21 a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0008t0011g0026
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0078t0005g0104
a0009c0087t0001g0111
a0010c0026t0001g0013
a0018c0052t0006g0086
a0023c0044t0001g0044
a0025c0072t0001g0095
a0045c0084t0006g0087
 21 HG00423.hp2
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp2
HG00738.hp1
HG01074.hp2
HG01243.hp1
HG01255.hp2
HG01433.hp1
HG01952.hp1
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02451.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG06807.hp2
NA18964.hp2
NA18971.hp2
NA18989.hp2
NA19005.hp2
NA19007.hp1
NA19240.hp1
 intron_variant MODIFIER c.8642+7227C>G
c.8642+7227C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765475
chr6:51765531 G
G
 A
A
 1 a0017c0089t0002g0116
a0017c0089t0002g0116
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.8642+7171C>T
c.8642+7171C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765531
chr6:51765537 A
A
 G
G
 12 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(9): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0011c0017t0005g0071
a0011c0017t0005g0080
a0030c0055t0002g0072
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0048c0023t0017g0081
 12 HG02055.hp1
HG02280.hp1
HG02280.hp2
others(9): Show 
HG02055.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02818.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.8642+7165T>C
c.8642+7165T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765537
chr6:51765726 C
C
 T
T
 54 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(51): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0040t0001g0029
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0045c0084t0006g0087
 54 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(51): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18971.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+6976G>A
c.8642+6976G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51765726
chr6:51766028 C
C
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+6674G>A
c.8642+6674G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766028
chr6:51766191 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(68): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8642+6511G>A
c.8642+6511G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766191
chr6:51766282 C
C
 T
T
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.8642+6420G>A
c.8642+6420G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766282
chr6:51766502 A
A
 C
C
 6 a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
others(3): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.8642+6200T>G
c.8642+6200T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766502
chr6:51766604 CTGG
CTGG
 C
C
 20 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(17): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 20 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(17): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8642+6095_8642+609
others(7): Show 
c.8642+6095_8642+6097delCCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766604
chr6:51766615 A
A
 ATATTTTT
others(13): Show 
ATATTTTTATTTTTTTTTTTT
 5 a0001c0093t0001g0127
a0002c0020t0003g0084
a0005c0040t0001g0029
others(2): Show 
a0001c0093t0001g0127
a0002c0020t0003g0084
a0005c0040t0001g0029
a0018c0052t0006g0086
a0045c0084t0006g0087
 5 HG01074.hp2
HG01433.hp1
HG03041.hp1
others(2): Show 
HG01074.hp2
HG01433.hp1
HG03041.hp1
HG03139.hp1
NA18989.hp2
 intron_variant MODIFIER c.8642+6086_8642+608
others(24): Show 
c.8642+6086_8642+6087insAAAAAAAAAAAATAAAAATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766615
chr6:51766615 A
A
 ATATTTTT
others(14): Show 
ATATTTTTATTTTTTTTTTTTT
 15 a0001c0002t0001g0083
a0001c0022t0001g0132
a0002c0021t0004g0128
others(12): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0017c0089t0002g0116
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
 15 HG00423.hp1
HG00738.hp1
HG01243.hp2
others(12): Show 
HG00423.hp1
HG00738.hp1
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG03098.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA19005.hp1
 intron_variant MODIFIER c.8642+6086_8642+608
others(25): Show 
c.8642+6086_8642+6087insAAAAAAAAAAAAATAAAAATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766615
chr6:51766718 C
C
 CT
CT
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5983dupA
c.8642+5983dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766718
chr6:51766743 C
C
 T
T
 2 a0001c0061t0001g0064
a0032c0058t0001g0070
a0001c0061t0001g0064
a0032c0058t0001g0070
 2 HG03453.hp1
HG03516.hp1
HG03453.hp1
HG03516.hp1
 intron_variant MODIFIER c.8642+5959G>A
c.8642+5959G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766743
chr6:51766936 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5766C>T
c.8642+5766C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51766936
chr6:51767076 A
A
 G
G
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5626T>C
c.8642+5626T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767076
chr6:51767137 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5565A>G
c.8642+5565A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767137
chr6:51767216 A
A
 AT
AT
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8642+5485dupA
c.8642+5485dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767216
chr6:51767220 A
A
 T
T
 38 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(35): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 38 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(35): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5482T>A
c.8642+5482T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767220
chr6:51767302 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5400C>T
c.8642+5400C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767302
chr6:51767395 G
G
 C
C
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.8642+5307C>G
c.8642+5307C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767395
chr6:51767465 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5237C>T
c.8642+5237C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767465
chr6:51767663 A
A
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+5039T>A
c.8642+5039T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767663
chr6:51767771 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4931A>G
c.8642+4931A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767771
chr6:51767778 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4924A>G
c.8642+4924A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767778
chr6:51767785 A
A
 C
C
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8642+4917T>G
c.8642+4917T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767785
chr6:51767849 A
A
 G
G
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4853T>C
c.8642+4853T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767849
chr6:51767915 T
T
 C
C
 67 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(64): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 67 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(64): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+4787A>G
c.8642+4787A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767915
chr6:51767979 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4723A>G
c.8642+4723A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51767979
chr6:51768035 T
T
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4667A>T
c.8642+4667A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768035
chr6:51768124 A
A
 G
G
 6 a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
others(3): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.8642+4578T>C
c.8642+4578T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768124
chr6:51768139 G
G
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4563C>G
c.8642+4563C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768139
chr6:51768157 G
G
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4545C>A
c.8642+4545C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768157
chr6:51768164 GT
GT
 G
G
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4537delA
c.8642+4537delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768164
chr6:51768293 T
T
 C
C
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp2
HG02698.hp2
HG02922.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8642+4409A>G
c.8642+4409A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768293
chr6:51768329 T
T
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8642+4373A>C
c.8642+4373A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768329
chr6:51768512 A
A
 G
G
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.8642+4190T>C
c.8642+4190T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768512
chr6:51768550 C
C
 A
A
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+4152G>T
c.8642+4152G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768550
chr6:51768611 C
C
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+4091G>T
c.8642+4091G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768611
chr6:51768822 A
A
 C
C
 2 a0001c0002t0001g0083
a0002c0020t0003g0084
a0001c0002t0001g0083
a0002c0020t0003g0084
 2 NA18975.hp1
NA18989.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.8642+3880T>G
c.8642+3880T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768822
chr6:51768873 T
T
 C
C
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.8642+3829A>G
c.8642+3829A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51768873
chr6:51769100 AT
AT
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3601delA
c.8642+3601delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769100
chr6:51769185 G
G
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3517C>A
c.8642+3517C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769185
chr6:51769220 A
A
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3482T>A
c.8642+3482T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769220
chr6:51769221 T
T
 A
A
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.8642+3481A>T
c.8642+3481A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769221
chr6:51769420 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3282C>T
c.8642+3282C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769420
chr6:51769467 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8642+3235G>A
c.8642+3235G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769467
chr6:51769473 A
A
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3229T>G
c.8642+3229T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769473
chr6:51769565 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3137G>A
c.8642+3137G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769565
chr6:51769615 A
A
 G
G
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8642+3087T>C
c.8642+3087T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769615
chr6:51769640 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3062A>G
c.8642+3062A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769640
chr6:51769694 AATC
AATC
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+3005_8642+300
others(7): Show 
c.8642+3005_8642+3007delGAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769694
chr6:51769703 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2999A>G
c.8642+2999A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769703
chr6:51769717 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2985A>G
c.8642+2985A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769717
chr6:51769810 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2892G>A
c.8642+2892G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769810
chr6:51769822 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2880C>T
c.8642+2880C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769822
chr6:51769825 C
C
 T
T
 2 a0012c0027t0002g0005
a0048c0023t0017g0081
a0012c0027t0002g0005
a0048c0023t0017g0081
 2 HG02622.hp1
NA18988.hp2
HG02622.hp1
NA18988.hp2
 intron_variant MODIFIER c.8642+2877G>A
c.8642+2877G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769825
chr6:51769832 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2870A>G
c.8642+2870A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769832
chr6:51769941 T
T
 C
C
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8642+2761A>G
c.8642+2761A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51769941
chr6:51770021 G
G
 GGTT
GGTT
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2680_8642+268
others(7): Show 
c.8642+2680_8642+2681insAAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770021
chr6:51770166 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2536C>T
c.8642+2536C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770166
chr6:51770213 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2489G>A
c.8642+2489G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770213
chr6:51770285 A
A
 G
G
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp2
HG02698.hp2
HG02922.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03540.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8642+2417T>C
c.8642+2417T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770285
chr6:51770381 C
C
 T
T
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8642+2321G>A
c.8642+2321G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770381
chr6:51770475 GTTATAA
GTTATAA
 G
G
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+2221_8642+222
others(10): Show 
c.8642+2221_8642+2226delTTATAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770475
chr6:51770485 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2217A>G
c.8642+2217A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770485
chr6:51770561 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2141C>T
c.8642+2141C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770561
chr6:51770598 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2104G>A
c.8642+2104G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770598
chr6:51770635 CT
CT
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2066delA
c.8642+2066delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770635
chr6:51770683 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+2019A>G
c.8642+2019A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770683
chr6:51770747 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+1955A>G
c.8642+1955A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770747
chr6:51770816 T
T
 C
C
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.8642+1886A>G
c.8642+1886A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51770816
chr6:51771104 TCTATCC
TCTATCC
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+1592_8642+159
others(10): Show 
c.8642+1592_8642+1597delGGATAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771104
chr6:51771199 T
T
 TAC
TAC
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0009c0056t0001g0073
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
HG03486.hp1
NA19240.hp2
 intron_variant MODIFIER c.8642+1501_8642+150
others(6): Show 
c.8642+1501_8642+1502dupGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771199
chr6:51771199 TAC
TAC
 T
T
 48 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(45): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
 48 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(45): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02965.hp1
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp2
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+1501_8642+150
others(6): Show 
c.8642+1501_8642+1502delGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771199
chr6:51771207 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+1495G>A
c.8642+1495G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771207
chr6:51771221 CACAT
CACAT
 C
C
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0009g0099
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0024c0068t0001g0091
a0044c0075t0001g0119
 15 HG01261.hp1
HG02040.hp1
HG02896.hp2
others(12): Show 
HG01261.hp1
HG02040.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8642+1477_8642+148
others(8): Show 
c.8642+1477_8642+1480delATGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771221
chr6:51771461 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+1241C>T
c.8642+1241C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771461
chr6:51771523 A
A
 G
G
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+1179T>C
c.8642+1179T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771523
chr6:51771526 G
G
 A
A
 3 a0003c0015t0001g0039
a0016c0090t0001g0120
a0036c0074t0003g0108
a0003c0015t0001g0039
a0016c0090t0001g0120
a0036c0074t0003g0108
 3 HG01081.hp2
HG01106.hp2
homoSapiens_chm13v2.hp1
HG01081.hp2
HG01106.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8642+1176C>T
c.8642+1176C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771526
chr6:51771533 C
C
 T
T
 37 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(34): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 37 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(34): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+1169G>A
c.8642+1169G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771533
chr6:51771556 T
T
 C
C
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.8642+1146A>G
c.8642+1146A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771556
chr6:51771557 C
C
 A
A
 37 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(34): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 37 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(34): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+1145G>T
c.8642+1145G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771557
chr6:51771557 C
C
 T
T
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.8642+1145G>A
c.8642+1145G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771557
chr6:51771616 C
C
 CA
CA
 11 a0001c0002t0001g0083
a0001c0093t0001g0127
a0002c0020t0003g0084
others(8): Show 
a0001c0002t0001g0083
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0018c0052t0006g0086
a0025c0072t0001g0095
a0045c0084t0006g0087
 11 HG00738.hp1
HG01074.hp2
HG01433.hp1
others(8): Show 
HG00738.hp1
HG01074.hp2
HG01433.hp1
HG02257.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG06807.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8642+1085dupT
c.8642+1085dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771616
chr6:51771699 T
T
 C
C
 37 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(34): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 37 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(34): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+1003A>G
c.8642+1003A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771699
chr6:51771802 A
A
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+900T>A
c.8642+900T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771802
chr6:51771965 T
T
 C
C
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8642+737A>G
c.8642+737A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51771965
chr6:51772261 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+441G>A
c.8642+441G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51772261
chr6:51772310 CAT
CAT
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+390_8642+391d
others(4): Show 
c.8642+390_8642+391delAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51772310
chr6:51772329 C
C
 T
T
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.8642+373G>A
c.8642+373G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51772329
chr6:51772442 G
G
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8642+260C>G
c.8642+260C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 55/66 chr6 51772442
chr6:51772913 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8555-124G>A
c.8555-124G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51772913
chr6:51773095 C
C
 T
T
 1 a0003c0012t0001g0032
a0003c0012t0001g0032
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.8555-306G>A
c.8555-306G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773095
chr6:51773103 C
C
 T
T
 1 a0035c0086t0001g0109
a0035c0086t0001g0109
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.8555-314G>A
c.8555-314G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773103
chr6:51773191 ACT
ACT
 A
A
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8555-404_8555-403d
others(4): Show 
c.8555-404_8555-403delAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773191
chr6:51773262 T
T
 A
A
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8555-473A>T
c.8555-473A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773262
chr6:51773281 G
G
 A
A
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8555-492C>T
c.8555-492C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773281
chr6:51773310 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8555-521C>T
c.8555-521C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773310
chr6:51773363 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8555-574A>G
c.8555-574A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773363
chr6:51773501 C
C
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8555-712G>T
c.8555-712G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773501
chr6:51773661 G
G
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8555-872C>T
c.8555-872C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773661
chr6:51773681 A
A
 C
C
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.8555-892T>G
c.8555-892T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773681
chr6:51773743 G
G
 A
A
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8555-954C>T
c.8555-954C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773743
chr6:51773799 AAAAT
AAAAT
 A
A
 42 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(39): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 42 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(39): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8555-1014_8555-101
others(8): Show 
c.8555-1014_8555-1011delATTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773799
chr6:51773803 T
T
 A
A
 65 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(62): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0044c0075t0001g0119
 65 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(62): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8555-1014A>T
c.8555-1014A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773803
chr6:51773828 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8555-1039G>A
c.8555-1039G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773828
chr6:51773830 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8555-1041T>C
c.8555-1041T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773830
chr6:51773831 C
C
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8555-1042G>T
c.8555-1042G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51773831
chr6:51774079 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8555-1290A>G
c.8555-1290A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774079
chr6:51774189 GT
GT
 G
G
 4 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(1): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
 4 HG01255.hp1
HG02970.hp2
HG03453.hp2
others(1): Show 
HG01255.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
 intron_variant MODIFIER c.8555-1401delA
c.8555-1401delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774189
chr6:51774489 T
T
 C
C
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8554+1319A>G
c.8554+1319A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774489
chr6:51774664 T
T
 C
C
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8554+1144A>G
c.8554+1144A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774664
chr6:51774748 A
A
 G
G
 4 a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
others(1): Show 
a0002c0005t0002g0018
a0003c0048t0001g0047
a0006c0011t0005g0063
a0012c0029t0002g0010
 4 HG02055.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02486.hp2
HG02809.hp2
NA20752.hp1
 intron_variant MODIFIER c.8554+1060T>C
c.8554+1060T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774748
chr6:51774770 C
C
 G
G
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.8554+1038G>C
c.8554+1038G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774770
chr6:51774813 A
A
 G
G
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8554+995T>C
c.8554+995T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774813
chr6:51774909 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8554+899A>G
c.8554+899A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51774909
chr6:51775053 TATA
TATA
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8554+752_8554+754d
others(5): Show 
c.8554+752_8554+754delTAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775053
chr6:51775081 C
C
 CAT
CAT
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8554+725_8554+726d
others(4): Show 
c.8554+725_8554+726dupAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775081
chr6:51775107 G
G
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8554+701C>A
c.8554+701C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775107
chr6:51775145 T
T
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8554+663A>C
c.8554+663A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775145
chr6:51775186 T
T
 A
A
 20 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(17): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 20 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(17): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8554+622A>T
c.8554+622A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775186
chr6:51775219 C
C
 A
A
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.8554+589G>T
c.8554+589G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775219
chr6:51775386 A
A
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.8554+422T>A
c.8554+422T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775386
chr6:51775458 T
T
 C
C
 20 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(17): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 20 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(17): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8554+350A>G
c.8554+350A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775458
chr6:51775698 G
G
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8554+110C>A
c.8554+110C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 54/66 chr6 51775698
chr6:51775953 C
C
 G
G
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-32G>C
c.8441-32G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51775953
chr6:51775989 A
A
 G
G
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-68T>C
c.8441-68T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51775989
chr6:51776075 TA
TA
 T
T
 6 a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
others(3): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.8441-155delT
c.8441-155delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776075
chr6:51776294 T
T
 C
C
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.8441-373A>G
c.8441-373A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776294
chr6:51776433 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-512A>G
c.8441-512A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776433
chr6:51776483 G
G
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8441-562C>T
c.8441-562C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776483
chr6:51776495 T
T
 C
C
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-574A>G
c.8441-574A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776495
chr6:51776707 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8441-786C>T
c.8441-786C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776707
chr6:51776733 A
A
 C
C
 9 a0001c0083t0001g0125
a0002c0091t0007g0133
a0006c0011t0005g0134
others(6): Show 
a0001c0083t0001g0125
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
 9 HG01243.hp1
HG02280.hp2
HG02922.hp1
others(6): Show 
HG01243.hp1
HG02280.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp1
HG03540.hp1
HG03540.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.8441-812T>G
c.8441-812T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776733
chr6:51776788 T
T
 C
C
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8441-867A>G
c.8441-867A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776788
chr6:51776794 C
C
 T
T
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.8441-873G>A
c.8441-873G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776794
chr6:51776992 C
C
 T
T
 43 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(40): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 43 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(40): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-1071G>A
c.8441-1071G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51776992
chr6:51777019 G
G
 A
A
 27 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(24): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0027c0069t0018g0092
a0032c0058t0001g0070
a0044c0075t0001g0119
 27 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(24): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01261.hp1
HG02040.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8441-1098C>T
c.8441-1098C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777019
chr6:51777201 T
T
 A
A
 5 a0001c0019t0001g0097
a0002c0080t0002g0121
a0003c0012t0001g0032
others(2): Show 
a0001c0019t0001g0097
a0002c0080t0002g0121
a0003c0012t0001g0032
a0010c0026t0001g0013
a0012c0027t0002g0005
 5 HG00423.hp2
NA18988.hp2
NA19001.hp1
others(2): Show 
HG00423.hp2
NA18988.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp1
 intron_variant MODIFIER c.8441-1280A>T
c.8441-1280A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777201
chr6:51777430 T
T
 C
C
 2 a0002c0092t0004g0002
a0023c0044t0001g0044
a0002c0092t0004g0002
a0023c0044t0001g0044
 2 HG01952.hp1
NA19003.hp2
HG01952.hp1
NA19003.hp2
 intron_variant MODIFIER c.8441-1509A>G
c.8441-1509A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777430
chr6:51777586 G
G
 A
A
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.8441-1665C>T
c.8441-1665C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777586
chr6:51777679 G
G
 GA
GA
 6 a0001c0019t0001g0118
a0004c0006t0003g0040
a0004c0008t0003g0003
others(3): Show 
a0001c0019t0001g0118
a0004c0006t0003g0040
a0004c0008t0003g0003
a0014c0024t0001g0004
a0020c0050t0001g0023
a0039c0066t0003g0098
 6 HG01496.hp2
HG02683.hp2
HG03669.hp1
others(3): Show 
HG01496.hp2
HG02683.hp2
HG03669.hp1
HG04228.hp1
HG06807.hp1
NA18964.hp1
 intron_variant MODIFIER c.8441-1759dupT
c.8441-1759dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 G
G
 GAA
GAA
 5 a0002c0031t0003g0014
a0004c0008t0004g0045
a0015c0025t0001g0031
others(2): Show 
a0002c0031t0003g0014
a0004c0008t0004g0045
a0015c0025t0001g0031
a0022c0042t0002g0051
a0047c0051t0004g0056
 5 HG03139.hp2
HG03239.hp2
HG04204.hp2
others(2): Show 
HG03139.hp2
HG03239.hp2
HG04204.hp2
NA18747.hp1
NA19001.hp2
 intron_variant MODIFIER c.8441-1760_8441-175
others(6): Show 
c.8441-1760_8441-1759dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAA
GAAA
 G
G
 11 a0001c0009t0001g0103
a0001c0010t0001g0078
a0002c0077t0002g0102
others(8): Show 
a0001c0009t0001g0103
a0001c0010t0001g0078
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0013t0001g0054
a0004c0006t0002g0055
a0005c0038t0001g0034
a0011c0017t0005g0080
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
 11 HG00423.hp1
HG01255.hp2
HG01952.hp2
others(8): Show 
HG00423.hp1
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02622.hp2
HG02922.hp2
HG03098.hp2
HG03139.hp1
HG03516.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.8441-1761_8441-175
others(7): Show 
c.8441-1761_8441-1759delTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAA
GAAAA
 G
G
 16 a0001c0002t0001g0083
a0001c0010t0001g0077
a0001c0022t0001g0132
others(13): Show 
a0001c0002t0001g0083
a0001c0010t0001g0077
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0047t0019g0015
a0005c0040t0001g0029
a0011c0017t0005g0071
a0017c0089t0002g0116
a0025c0072t0001g0095
a0037c0060t0005g0022
a0045c0084t0006g0087
 16 HG00738.hp1
HG01074.hp2
HG01243.hp2
others(13): Show 
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01433.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.8441-1762_8441-175
others(8): Show 
c.8441-1762_8441-1759delTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAA
GAAAAAA
 G
G
 5 a0002c0005t0002g0021
a0004c0006t0002g0048
a0006c0076t0005g0088
others(2): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0006c0076t0005g0088
a0009c0054t0001g0082
a0048c0023t0017g0081
 5 HG02055.hp1
HG02486.hp1
HG02622.hp1
others(2): Show 
HG02055.hp1
HG02486.hp1
HG02622.hp1
HG02976.hp2
HG03486.hp2
 intron_variant MODIFIER c.8441-1764_8441-175
others(10): Show 
c.8441-1764_8441-1759delTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(4): Show 
GAAAAAAAAAAA
 G
G
 2 a0026c0073t0005g0094
a0029c0070t0008g0090
a0026c0073t0005g0094
a0029c0070t0008g0090
 2 HG01175.hp1
HG02717.hp1
HG01175.hp1
HG02717.hp1
 intron_variant MODIFIER c.8441-1769_8441-175
others(15): Show 
c.8441-1769_8441-1759delTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(5): Show 
GAAAAAAAAAAAA
 G
G
 3 a0028c0071t0012g0093
a0031c0057t0013g0067
a0033c0059t0008g0001
a0028c0071t0012g0093
a0031c0057t0013g0067
a0033c0059t0008g0001
 3 HG00741.hp1
HG02896.hp1
HG03471.hp2
HG00741.hp1
HG02896.hp1
HG03471.hp2
 intron_variant MODIFIER c.8441-1770_8441-175
others(16): Show 
c.8441-1770_8441-1759delTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(6): Show 
GAAAAAAAAAAAAA
 G
G
 1 a0043c0063t0005g0066
a0043c0063t0005g0066
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-1771_8441-175
others(17): Show 
c.8441-1771_8441-1759delTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(8): Show 
GAAAAAAAAAAAAAAA
 G
G
 4 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(1): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
 4 HG01255.hp1
HG02970.hp2
HG03453.hp2
others(1): Show 
HG01255.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
 intron_variant MODIFIER c.8441-1773_8441-175
others(19): Show 
c.8441-1773_8441-1759delTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(9): Show 
GAAAAAAAAAAAAAAAA
 G
G
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.8441-1774_8441-175
others(20): Show 
c.8441-1774_8441-1759delTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(11): Show 
GAAAAAAAAAAAAAAAAAA
 G
G
 2 a0007c0003t0001g0011
a0038c0062t0002g0065
a0007c0003t0001g0011
a0038c0062t0002g0065
 2 HG03041.hp2
NA18989.hp1
HG03041.hp2
NA18989.hp1
 intron_variant MODIFIER c.8441-1776_8441-175
others(22): Show 
c.8441-1776_8441-1759delTTTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(12): Show 
GAAAAAAAAAAAAAAAAAAA
 G
G
 30 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(27): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0012
a0010c0030t0001g0007
a0012c0029t0002g0010
a0027c0069t0018g0092
a0032c0058t0001g0070
a0042c0035t0006g0059
a0044c0075t0001g0119
 30 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(27): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8441-1777_8441-175
others(23): Show 
c.8441-1777_8441-1759delTTTTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(14): Show 
GAAAAAAAAAAAAAAAAAAAAA
 G
G
 32 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(29): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0036c0074t0003g0108
a0040c0081t0001g0124
 32 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(29): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-1779_8441-175
others(25): Show 
c.8441-1779_8441-1759delTTTTTTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777679 GAAAAAAA
others(15): Show 
GAAAAAAAAAAAAAAAAAAAAAA
 G
G
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.8441-1780_8441-175
others(26): Show 
c.8441-1780_8441-1759delTTTTTTTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777679
chr6:51777686 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8441-1765T>C
c.8441-1765T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777686
chr6:51777701 A
A
 G
G
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.8441-1780T>C
c.8441-1780T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777701
chr6:51777910 A
A
 C
C
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-1989T>G
c.8441-1989T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51777910
chr6:51778015 G
G
 C
C
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2094C>G
c.8441-2094C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778015
chr6:51778037 C
C
 T
T
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2116G>A
c.8441-2116G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778037
chr6:51778119 C
C
 CA
CA
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2199dupT
c.8441-2199dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778119
chr6:51778216 C
C
 T
T
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2295G>A
c.8441-2295G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778216
chr6:51778234 T
T
 G
G
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2313A>C
c.8441-2313A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778234
chr6:51778401 G
G
 A
A
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.8441-2480C>T
c.8441-2480C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778401
chr6:51778402 T
T
 A
A
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.8441-2481A>T
c.8441-2481A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778402
chr6:51778440 C
C
 T
T
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8441-2519G>A
c.8441-2519G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778440
chr6:51778470 C
C
 T
T
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2549G>A
c.8441-2549G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778470
chr6:51778626 T
T
 A
A
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2705A>T
c.8441-2705A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778626
chr6:51778692 G
G
 A
A
 34 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(31): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 34 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(31): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-2771C>T
c.8441-2771C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778692
chr6:51778843 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-2922C>T
c.8441-2922C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778843
chr6:51778887 T
T
 C
C
 1 a0001c0061t0001g0064
a0001c0061t0001g0064
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.8441-2966A>G
c.8441-2966A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778887
chr6:51778960 C
C
 T
T
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8441-3039G>A
c.8441-3039G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778960
chr6:51778969 T
T
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-3048A>C
c.8441-3048A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51778969
chr6:51779006 T
T
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-3085A>G
c.8441-3085A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779006
chr6:51779325 G
G
 A
A
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.8441-3404C>T
c.8441-3404C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779325
chr6:51779356 C
C
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-3435G>C
c.8441-3435G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779356
chr6:51779418 G
G
 A
A
 2 a0006c0011t0005g0134
a0009c0087t0001g0111
a0006c0011t0005g0134
a0009c0087t0001g0111
 2 HG01243.hp1
NA19240.hp1
HG01243.hp1
NA19240.hp1
 intron_variant MODIFIER c.8441-3497C>T
c.8441-3497C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779418
chr6:51779503 T
T
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8441-3582A>G
c.8441-3582A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779503
chr6:51779524 T
T
 C
C
 34 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(31): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 34 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(31): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-3603A>G
c.8441-3603A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779524
chr6:51779789 T
T
 TA
TA
 40 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(37): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0001c0061t0001g0064
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
 40 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(37): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-3869dupT
c.8441-3869dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779789
chr6:51779889 G
G
 A
A
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-3968C>T
c.8441-3968C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779889
chr6:51779926 C
C
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4005G>A
c.8441-4005G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51779926
chr6:51780030 T
T
 TA
TA
 41 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(38): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 41 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(38): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8441-4110dupT
c.8441-4110dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780030
chr6:51780048 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4127C>T
c.8441-4127C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780048
chr6:51780117 G
G
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8441-4196C>G
c.8441-4196C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780117
chr6:51780144 C
C
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4223G>A
c.8441-4223G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780144
chr6:51780151 G
G
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8441-4230C>A
c.8441-4230C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780151
chr6:51780153 C
C
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8441-4232G>A
c.8441-4232G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780153
chr6:51780217 C
C
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4296G>T
c.8441-4296G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780217
chr6:51780243 T
T
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4322A>C
c.8441-4322A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780243
chr6:51780254 G
G
 A
A
 20 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(17): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 20 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(17): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8441-4333C>T
c.8441-4333C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780254
chr6:51780310 C
C
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4389G>T
c.8441-4389G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780310
chr6:51780318 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4397C>T
c.8441-4397C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780318
chr6:51780335 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4414C>T
c.8441-4414C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780335
chr6:51780373 A
A
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4452T>G
c.8441-4452T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780373
chr6:51780759 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-4838C>T
c.8441-4838C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780759
chr6:51780776 C
C
 T
T
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.8441-4855G>A
c.8441-4855G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780776
chr6:51780777 G
G
 A
A
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.8441-4856C>T
c.8441-4856C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780777
chr6:51780998 C
C
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5077G>A
c.8441-5077G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51780998
chr6:51781039 T
T
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5118A>T
c.8441-5118A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781039
chr6:51781041 T
T
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5120A>C
c.8441-5120A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781041
chr6:51781170 C
C
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5249G>C
c.8441-5249G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781170
chr6:51781203 G
G
 A
A
 1 a0030c0055t0002g0072
a0030c0055t0002g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.8441-5282C>T
c.8441-5282C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781203
chr6:51781260 T
T
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5339A>G
c.8441-5339A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781260
chr6:51781301 A
A
 C
C
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.8441-5380T>G
c.8441-5380T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781301
chr6:51781438 T
T
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5517A>T
c.8441-5517A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781438
chr6:51781449 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5528C>T
c.8441-5528C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781449
chr6:51781643 T
T
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5722A>G
c.8441-5722A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781643
chr6:51781661 C
C
 T
T
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5740G>A
c.8441-5740G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781661
chr6:51781664 A
A
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5743T>C
c.8441-5743T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781664
chr6:51781721 A
A
 C
C
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.8441-5800T>G
c.8441-5800T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781721
chr6:51781893 G
G
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-5972C>A
c.8441-5972C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781893
chr6:51781941 C
C
 T
T
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.8441-6020G>A
c.8441-6020G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781941
chr6:51781962 TA
TA
 T
T
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-6042delT
c.8441-6042delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51781962
chr6:51782048 T
T
 TTTA
TTTA
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-6130_8441-612
others(7): Show 
c.8441-6130_8441-6128dupTAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782048
chr6:51782200 A
A
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-6279T>C
c.8441-6279T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782200
chr6:51782287 A
A
 C
C
 2 a0006c0011t0005g0134
a0009c0087t0001g0111
a0006c0011t0005g0134
a0009c0087t0001g0111
 2 HG01243.hp1
NA19240.hp1
HG01243.hp1
NA19240.hp1
 intron_variant MODIFIER c.8441-6366T>G
c.8441-6366T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782287
chr6:51782451 T
T
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-6530A>G
c.8441-6530A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782451
chr6:51782453 A
A
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-6532T>A
c.8441-6532T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782453
chr6:51782659 T
T
 C
C
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.8441-6738A>G
c.8441-6738A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782659
chr6:51782707 G
G
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.8441-6786C>A
c.8441-6786C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782707
chr6:51782818 C
C
 A
A
 1 a0002c0004t0003g0126
a0002c0004t0003g0126
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.8441-6897G>T
c.8441-6897G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782818
chr6:51782849 C
C
 T
T
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.8441-6928G>A
c.8441-6928G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51782849
chr6:51783015 G
G
 A
A
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-7094C>T
c.8441-7094C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783015
chr6:51783094 C
C
 G
G
 2 a0001c0001t0001g0060
a0001c0094t0001g0131
a0001c0001t0001g0060
a0001c0094t0001g0131
 2 HG02809.hp1
HG02965.hp1
HG02809.hp1
HG02965.hp1
 intron_variant MODIFIER c.8441-7173G>C
c.8441-7173G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783094
chr6:51783284 T
T
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-7363A>C
c.8441-7363A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783284
chr6:51783385 A
A
 T
T
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8441-7464T>A
c.8441-7464T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783385
chr6:51783396 C
C
 A
A
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8441-7475G>T
c.8441-7475G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783396
chr6:51783399 T
T
 C
C
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8441-7478A>G
c.8441-7478A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783399
chr6:51783399 T
T
 TATTTATT
others(20): Show 
TATTTATTTTATATTATTTAAATAATAC
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-7479_8441-747
others(31): Show 
c.8441-7479_8441-7478insGTATTATTTAAATAATATAAAATAAA
T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783399
chr6:51783452 T
T
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8441-7531A>G
c.8441-7531A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783452
chr6:51783532 T
T
 G
G
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.8441-7611A>C
c.8441-7611A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783532
chr6:51783540 CTGTT
CTGTT
 C
C
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8441-7623_8441-762
others(8): Show 
c.8441-7623_8441-7620delAACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783540
chr6:51783747 G
G
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+7489C>A
c.8440+7489C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783747
chr6:51783830 A
A
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+7406T>A
c.8440+7406T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783830
chr6:51783853 T
T
 C
C
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.8440+7383A>G
c.8440+7383A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51783853
chr6:51784024 C
C
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+7212G>A
c.8440+7212G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784024
chr6:51784168 C
C
 T
T
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.8440+7068G>A
c.8440+7068G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784168
chr6:51784264 G
G
 GT
GT
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+6971dupA
c.8440+6971dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784264
chr6:51784281 A
A
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+6955T>C
c.8440+6955T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784281
chr6:51784297 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8440+6939C>T
c.8440+6939C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784297
chr6:51784522 A
A
 G
G
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.8440+6714T>C
c.8440+6714T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784522
chr6:51784855 C
C
 CT
CT
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8440+6380dupA
c.8440+6380dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784855
chr6:51784931 A
A
 G
G
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.8440+6305T>C
c.8440+6305T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784931
chr6:51784979 A
A
 G
G
 3 a0004c0006t0002g0055
a0030c0055t0002g0072
a0041c0088t0006g0114
a0004c0006t0002g0055
a0030c0055t0002g0072
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp1
HG03516.hp2
HG02280.hp1
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.8440+6257T>C
c.8440+6257T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51784979
chr6:51785042 A
A
 G
G
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.8440+6194T>C
c.8440+6194T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785042
chr6:51785067 T
T
 C
C
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.8440+6169A>G
c.8440+6169A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785067
chr6:51785107 A
A
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+6129T>G
c.8440+6129T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785107
chr6:51785246 C
C
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+5990G>A
c.8440+5990G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785246
chr6:51785523 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+5713C>T
c.8440+5713C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785523
chr6:51785603 T
T
 G
G
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8440+5633A>C
c.8440+5633A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785603
chr6:51785704 T
T
 C
C
 3 a0004c0006t0002g0055
a0030c0055t0002g0072
a0041c0088t0006g0114
a0004c0006t0002g0055
a0030c0055t0002g0072
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp1
HG03516.hp2
HG02280.hp1
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.8440+5532A>G
c.8440+5532A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785704
chr6:51785758 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8440+5478G>A
c.8440+5478G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785758
chr6:51785874 G
G
 A
A
 27 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(24): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 27 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(24): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8440+5362C>T
c.8440+5362C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785874
chr6:51785895 G
G
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+5341C>T
c.8440+5341C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785895
chr6:51785962 G
G
 A
A
 9 a0001c0022t0001g0132
a0002c0021t0004g0130
a0002c0077t0002g0102
others(6): Show 
a0001c0022t0001g0132
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01243.hp2
HG01255.hp2
others(6): Show 
HG00423.hp1
HG01243.hp2
HG01255.hp2
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG03704.hp2
NA18971.hp2
 intron_variant MODIFIER c.8440+5274C>T
c.8440+5274C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785962
chr6:51785975 C
C
 A
A
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.8440+5261G>T
c.8440+5261G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51785975
chr6:51786001 A
A
 G
G
 34 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(31): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 34 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(31): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8440+5235T>C
c.8440+5235T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786001
chr6:51786128 C
C
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8440+5108G>T
c.8440+5108G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786128
chr6:51786165 C
C
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+5071G>A
c.8440+5071G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786165
chr6:51786487 C
C
 T
T
 34 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(31): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 34 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(31): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8440+4749G>A
c.8440+4749G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786487
chr6:51786500 T
T
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8440+4736A>G
c.8440+4736A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786500
chr6:51786638 T
T
 C
C
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.8440+4598A>G
c.8440+4598A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786638
chr6:51786807 C
C
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+4429G>A
c.8440+4429G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786807
chr6:51786814 C
C
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+4422G>T
c.8440+4422G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786814
chr6:51786852 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8440+4384G>A
c.8440+4384G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786852
chr6:51786884 C
C
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+4352G>C
c.8440+4352G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51786884
chr6:51787123 G
G
 T
T
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+4113C>A
c.8440+4113C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787123
chr6:51787146 T
T
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+4090A>C
c.8440+4090A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787146
chr6:51787349 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8440+3887T>C
c.8440+3887T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787349
chr6:51787362 G
G
 GAAA
GAAA
 34 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(31): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0027c0069t0018g0092
a0032c0058t0001g0070
a0037c0060t0005g0022
a0042c0035t0006g0059
a0044c0075t0001g0119
 34 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(31): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8440+3871_8440+387
others(7): Show 
c.8440+3871_8440+3873dupTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787362
chr6:51787362 G
G
 GAAAA
GAAAA
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+3870_8440+387
others(8): Show 
c.8440+3870_8440+3873dupTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787362
chr6:51787382 A
A
 T
T
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.8440+3854T>A
c.8440+3854T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787382
chr6:51787460 C
C
 T
T
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.8440+3776G>A
c.8440+3776G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787460
chr6:51787494 C
C
 T
T
 4 a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
others(1): Show 
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
 4 HG01243.hp1
HG03098.hp1
HG03540.hp2
others(1): Show 
HG01243.hp1
HG03098.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.8440+3742G>A
c.8440+3742G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787494
chr6:51787537 A
A
 G
G
 104 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(101): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 104 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(101): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+3699T>C
c.8440+3699T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787537
chr6:51787604 A
A
 G
G
 27 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(24): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0027c0069t0018g0092
a0032c0058t0001g0070
a0044c0075t0001g0119
 27 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(24): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01261.hp1
HG02040.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG04184.hp2
HG04228.hp2
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8440+3632T>C
c.8440+3632T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787604
chr6:51787620 T
T
 A
A
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+3616A>T
c.8440+3616A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787620
chr6:51787694 T
T
 C
C
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.8440+3542A>G
c.8440+3542A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787694
chr6:51787787 A
A
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+3449T>C
c.8440+3449T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787787
chr6:51787797 T
T
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+3439A>C
c.8440+3439A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787797
chr6:51787861 G
G
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8440+3375C>A
c.8440+3375C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51787861
chr6:51788066 T
T
 A
A
 34 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(31): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 34 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(31): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8440+3170A>T
c.8440+3170A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788066
chr6:51788076 G
G
 T
T
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8440+3160C>A
c.8440+3160C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788076
chr6:51788209 G
G
 A
A
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.8440+3027C>T
c.8440+3027C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788209
chr6:51788228 T
T
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+3008A>G
c.8440+3008A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788228
chr6:51788255 T
T
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+2981A>G
c.8440+2981A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788255
chr6:51788289 A
A
 G
G
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+2947T>C
c.8440+2947T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788289
chr6:51788421 G
G
 GTTCTCCT
others(10): Show 
GTTCTCCTTTATTCTGAC
 3 a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02280.hp2
HG02922.hp1
HG03540.hp1
HG02280.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8440+2798_8440+281
others(21): Show 
c.8440+2798_8440+2814dupGTCAGAATAAAGGAGAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788421
chr6:51788431 AT
AT
 A
A
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+2804delA
c.8440+2804delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788431
chr6:51788702 C
C
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+2534G>C
c.8440+2534G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788702
chr6:51788711 TACCTCAT
others(46): Show 
TACCTCATCCCATTTGGATCTTTGTAAATCATTTCTTTATTTAAATCCCT
TCAA
 T
T
 6 a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
others(3): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.8440+2472_8440+252
others(57): Show 
c.8440+2472_8440+2524delTTGAAGGGATTTAAATAAAGAAATGA
TTTACAAAGATCCAAATGGGATGAGGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788711
chr6:51788815 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+2421T>C
c.8440+2421T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788815
chr6:51788961 C
C
 T
T
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.8440+2275G>A
c.8440+2275G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51788961
chr6:51789066 T
T
 C
C
 110 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(107): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 110 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(107): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+2170A>G
c.8440+2170A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789066
chr6:51789405 T
T
 C
C
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8440+1831A>G
c.8440+1831A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789405
chr6:51789471 T
T
 G
G
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.8440+1765A>C
c.8440+1765A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789471
chr6:51789581 G
G
 GA
GA
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+1654dupT
c.8440+1654dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789581
chr6:51789596 T
T
 C
C
 20 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(17): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 20 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(17): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8440+1640A>G
c.8440+1640A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789596
chr6:51789633 T
T
 C
C
 34 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(31): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0009c0054t0001g0082
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 34 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(31): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA20300.hp1
 intron_variant MODIFIER c.8440+1603A>G
c.8440+1603A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789633
chr6:51789709 G
G
 T
T
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.8440+1527C>A
c.8440+1527C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789709
chr6:51789745 A
A
 T
T
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.8440+1491T>A
c.8440+1491T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789745
chr6:51789972 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8440+1264G>A
c.8440+1264G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51789972
chr6:51790043 A
A
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+1193T>G
c.8440+1193T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790043
chr6:51790050 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+1186G>A
c.8440+1186G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790050
chr6:51790099 C
C
 A
A
 2 a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0020t0008g0110
a0002c0065t0007g0068
 2 HG03453.hp2
HG03471.hp1
HG03453.hp2
HG03471.hp1
 intron_variant MODIFIER c.8440+1137G>T
c.8440+1137G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790099
chr6:51790183 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+1053A>G
c.8440+1053A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790183
chr6:51790335 A
A
 C
C
 20 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(17): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
 20 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(17): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8440+901T>G
c.8440+901T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790335
chr6:51790609 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+627T>C
c.8440+627T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790609
chr6:51790817 G
G
 C
C
 1 a0004c0046t0002g0050
a0004c0046t0002g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.8440+419C>G
c.8440+419C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790817
chr6:51790998 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+238A>G
c.8440+238A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51790998
chr6:51791005 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8440+231G>A
c.8440+231G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51791005
chr6:51791107 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8440+129T>C
c.8440+129T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51791107
chr6:51791165 T
T
 C
C
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.8440+71A>G
c.8440+71A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 53/66 chr6 51791165
chr6:51791438 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-65C>A
c.8303-65C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791438
chr6:51791578 T
T
 C
C
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.8303-205A>G
c.8303-205A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791578
chr6:51791590 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-217T>C
c.8303-217T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791590
chr6:51791663 G
G
 A
A
 4 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(1): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
 4 HG01255.hp1
HG02970.hp2
HG03453.hp2
others(1): Show 
HG01255.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
 intron_variant MODIFIER c.8303-290C>T
c.8303-290C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791663
chr6:51791701 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-328A>G
c.8303-328A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791701
chr6:51791753 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-380C>T
c.8303-380C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791753
chr6:51791831 C
C
 T
T
 4 a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
others(1): Show 
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
 4 HG01255.hp1
HG02970.hp2
HG03453.hp2
others(1): Show 
HG01255.hp1
HG02970.hp2
HG03453.hp2
HG03471.hp1
 intron_variant MODIFIER c.8303-458G>A
c.8303-458G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791831
chr6:51791857 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-484A>G
c.8303-484A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791857
chr6:51791953 AAGCTATC
others(34): Show 
AAGCTATCTCTAATTCCCTAAGTCCCATTGTGTAAGGTAAAG
 A
A
 1 a0009c0056t0001g0073
a0009c0056t0001g0073
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.8303-621_8303-581d
others(43): Show 
c.8303-621_8303-581delCTTTACCTTACACAATGGGACTTAGGGA
ATTAGAGATAGCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791953
chr6:51791959 T
T
 A
A
 2 a0001c0002t0001g0083
a0002c0020t0003g0084
a0001c0002t0001g0083
a0002c0020t0003g0084
 2 NA18975.hp1
NA18989.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.8303-586A>T
c.8303-586A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51791959
chr6:51792037 A
A
 T
T
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.8303-664T>A
c.8303-664T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51792037
chr6:51792040 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-667C>T
c.8303-667C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51792040
chr6:51792286 A
A
 G
G
 4 a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
others(1): Show 
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0043c0063t0005g0066
 4 HG00741.hp1
HG02717.hp1
HG02896.hp1
others(1): Show 
HG00741.hp1
HG02717.hp1
HG02896.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-913T>C
c.8303-913T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51792286
chr6:51792500 C
C
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-1127G>C
c.8303-1127G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51792500
chr6:51792666 T
T
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-1293A>C
c.8303-1293A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51792666
chr6:51792809 C
C
 A
A
 63 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(60): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 63 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(60): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-1436G>T
c.8303-1436G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51792809
chr6:51792830 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8303-1457G>A
c.8303-1457G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51792830
chr6:51793026 T
T
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-1653A>T
c.8303-1653A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793026
chr6:51793204 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-1831A>G
c.8303-1831A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793204
chr6:51793303 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8303-1930A>G
c.8303-1930A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793303
chr6:51793587 C
C
 T
T
 37 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0082t0001g0105
others(34): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0009c0056t0001g0073
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 37 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(34): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-2214G>A
c.8303-2214G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793587
chr6:51793649 G
G
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2276C>G
c.8303-2276C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793649
chr6:51793791 T
T
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2418A>C
c.8303-2418A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793791
chr6:51793806 C
C
 T
T
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.8303-2433G>A
c.8303-2433G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793806
chr6:51793838 G
G
 A
A
 36 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(33): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0008c0018t0020g0074
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 36 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(33): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2465C>T
c.8303-2465C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793838
chr6:51793943 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.8303-2570G>A
c.8303-2570G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793943
chr6:51793944 G
G
 A
A
 2 a0004c0046t0002g0050
a0006c0076t0005g0088
a0004c0046t0002g0050
a0006c0076t0005g0088
 2 HG02486.hp1
NA19005.hp1
HG02486.hp1
NA19005.hp1
 intron_variant MODIFIER c.8303-2571C>T
c.8303-2571C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793944
chr6:51793982 T
T
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2609A>C
c.8303-2609A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51793982
chr6:51794047 CT
CT
 C
C
 6 a0001c0019t0001g0118
a0002c0091t0007g0133
a0008c0018t0020g0074
others(3): Show 
a0001c0019t0001g0118
a0002c0091t0007g0133
a0008c0018t0020g0074
a0008c0053t0016g0069
a0031c0057t0013g0067
a0038c0062t0002g0065
 6 HG02896.hp1
HG02965.hp2
HG03041.hp2
others(3): Show 
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03540.hp2
NA18964.hp1
 intron_variant MODIFIER c.8303-2675delA
c.8303-2675delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794047
chr6:51794047 CTTT
CTTT
 C
C
 69 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(66): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 69 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(66): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2677_8303-267
others(7): Show 
c.8303-2677_8303-2675delAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794047
chr6:51794146 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2773A>G
c.8303-2773A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794146
chr6:51794161 C
C
 T
T
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.8303-2788G>A
c.8303-2788G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794161
chr6:51794186 G
G
 A
A
 36 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(33): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0007c0003t0001g0011
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 36 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(33): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2813C>T
c.8303-2813C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794186
chr6:51794319 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-2946C>T
c.8303-2946C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794319
chr6:51794426 G
G
 A
A
 1 a0035c0086t0001g0109
a0035c0086t0001g0109
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.8303-3053C>T
c.8303-3053C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794426
chr6:51794637 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-3264C>T
c.8303-3264C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794637
chr6:51794792 G
G
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8303-3419C>T
c.8303-3419C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794792
chr6:51794842 T
T
 C
C
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.8303-3469A>G
c.8303-3469A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794842
chr6:51794940 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-3567C>T
c.8303-3567C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51794940
chr6:51795007 G
G
 T
T
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.8303-3634C>A
c.8303-3634C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795007
chr6:51795032 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-3659C>T
c.8303-3659C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795032
chr6:51795142 T
T
 C
C
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.8303-3769A>G
c.8303-3769A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795142
chr6:51795216 A
A
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-3843T>A
c.8303-3843T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795216
chr6:51795275 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-3902G>A
c.8303-3902G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795275
chr6:51795312 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-3939C>T
c.8303-3939C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795312
chr6:51795432 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4059T>C
c.8303-4059T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795432
chr6:51795462 T
T
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4089A>C
c.8303-4089A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795462
chr6:51795675 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4302T>C
c.8303-4302T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795675
chr6:51795870 A
A
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4497T>G
c.8303-4497T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795870
chr6:51795885 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4512A>G
c.8303-4512A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795885
chr6:51795980 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4607C>A
c.8303-4607C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51795980
chr6:51796029 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-4656T>C
c.8303-4656T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796029
chr6:51796036 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4663C>T
c.8303-4663C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796036
chr6:51796213 A
A
 AT
AT
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4841dupA
c.8303-4841dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796213
chr6:51796222 C
C
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-4849G>C
c.8303-4849G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796222
chr6:51796269 C
C
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8303-4896G>T
c.8303-4896G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796269
chr6:51796432 G
G
 GT
GT
 28 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(25): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0009c0056t0001g0073
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 28 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(25): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-5060dupA
c.8303-5060dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796432
chr6:51796432 G
G
 GTT
GTT
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5061_8303-506
others(6): Show 
c.8303-5061_8303-5060dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796432
chr6:51796432 G
G
 GTTT
GTTT
 9 a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
others(6): Show 
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0005t0002g0018
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0037c0060t0005g0022
a0042c0035t0006g0059
 9 HG02055.hp2
HG02280.hp2
HG02809.hp1
others(6): Show 
HG02055.hp2
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03540.hp1
NA19090.hp2
NA20129.hp1
NA20752.hp1
 intron_variant MODIFIER c.8303-5062_8303-506
others(7): Show 
c.8303-5062_8303-5060dupAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796432
chr6:51796432 G
G
 GTTTT
GTTTT
 27 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(24): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0002c0005t0004g0076
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0027c0069t0018g0092
a0032c0058t0001g0070
a0039c0066t0003g0098
a0044c0075t0001g0119
 27 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(24): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01261.hp1
HG02040.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8303-5063_8303-506
others(8): Show 
c.8303-5063_8303-5060dupAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796432
chr6:51796641 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5268A>G
c.8303-5268A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796641
chr6:51796773 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5400C>T
c.8303-5400C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796773
chr6:51796817 A
A
 ATT
ATT
 33 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(30): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 33 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(30): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5446_8303-544
others(6): Show 
c.8303-5446_8303-5445dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796817
chr6:51796817 A
A
 ATTT
ATTT
 29 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(26): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0002c0004t0003g0126
a0002c0005t0002g0018
a0002c0080t0002g0121
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0012
a0010c0030t0001g0007
a0012c0029t0002g0010
a0021c0045t0001g0036
a0027c0069t0018g0092
a0039c0066t0003g0098
a0042c0035t0006g0059
a0044c0075t0001g0119
 29 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(26): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01261.hp1
HG01433.hp2
HG02040.hp1
HG02055.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG04184.hp2
HG06807.hp1
NA18975.hp2
NA18988.hp1
NA19001.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-5447_8303-544
others(7): Show 
c.8303-5447_8303-5445dupAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796817
chr6:51796817 A
A
 ATTTT
ATTTT
 7 a0001c0094t0001g0131
a0002c0005t0004g0076
a0007c0003t0001g0011
others(4): Show 
a0001c0094t0001g0131
a0002c0005t0004g0076
a0007c0003t0001g0011
a0011c0017t0005g0071
a0011c0017t0005g0080
a0032c0058t0001g0070
a0037c0060t0005g0022
 7 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(4): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03516.hp1
HG03540.hp1
HG04228.hp2
NA18989.hp1
 intron_variant MODIFIER c.8303-5448_8303-544
others(8): Show 
c.8303-5448_8303-5445dupAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796817
chr6:51796878 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5505C>A
c.8303-5505C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796878
chr6:51796916 G
G
 A
A
 112 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(109): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 112 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(109): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5543C>T
c.8303-5543C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51796916
chr6:51797014 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 71 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5641C>T
c.8303-5641C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797014
chr6:51797178 T
T
 C
C
 2 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0002t0009g0099
a0001c0002t0009g0100
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.8303-5805A>G
c.8303-5805A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797178
chr6:51797254 G
G
 A
A
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.8303-5881C>T
c.8303-5881C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797254
chr6:51797254 G
G
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5881C>G
c.8303-5881C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797254
chr6:51797265 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5892C>A
c.8303-5892C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797265
chr6:51797272 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5899C>A
c.8303-5899C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797272
chr6:51797284 T
T
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5911A>C
c.8303-5911A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797284
chr6:51797364 G
G
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-5991C>G
c.8303-5991C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797364
chr6:51797411 A
A
 G
G
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.8303-6038T>C
c.8303-6038T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797411
chr6:51797424 G
G
 A
A
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6051C>T
c.8303-6051C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797424
chr6:51797430 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6057T>C
c.8303-6057T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797430
chr6:51797495 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6122G>A
c.8303-6122G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797495
chr6:51797586 T
T
 C
C
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-6213A>G
c.8303-6213A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797586
chr6:51797625 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6252A>G
c.8303-6252A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51797625
chr6:51798023 C
C
 T
T
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.8303-6650G>A
c.8303-6650G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798023
chr6:51798054 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6681C>T
c.8303-6681C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798054
chr6:51798115 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-6742C>T
c.8303-6742C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798115
chr6:51798144 T
T
 C
C
 109 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(106): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 109 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(106): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6771A>G
c.8303-6771A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798144
chr6:51798145 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6772C>T
c.8303-6772C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798145
chr6:51798216 T
T
 C
C
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.8303-6843A>G
c.8303-6843A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798216
chr6:51798336 C
C
 G
G
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.8303-6963G>C
c.8303-6963G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798336
chr6:51798342 T
T
 A
A
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.8303-6969A>T
c.8303-6969A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798342
chr6:51798357 T
T
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-6984A>C
c.8303-6984A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798357
chr6:51798377 C
C
 CA
CA
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7005dupT
c.8303-7005dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798377
chr6:51798527 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-7154G>A
c.8303-7154G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798527
chr6:51798543 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7170A>G
c.8303-7170A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798543
chr6:51798591 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7218C>A
c.8303-7218C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798591
chr6:51798613 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8303-7240A>G
c.8303-7240A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798613
chr6:51798622 G
G
 A
A
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.8303-7249C>T
c.8303-7249C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798622
chr6:51798762 T
T
 C
C
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.8303-7389A>G
c.8303-7389A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798762
chr6:51798804 C
C
 G
G
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.8303-7431G>C
c.8303-7431G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798804
chr6:51798817 A
A
 G
G
 5 a0009c0056t0001g0073
a0028c0071t0012g0093
a0029c0070t0008g0090
others(2): Show 
a0009c0056t0001g0073
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.8303-7444T>C
c.8303-7444T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798817
chr6:51798831 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7458A>G
c.8303-7458A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798831
chr6:51798876 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7503T>C
c.8303-7503T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798876
chr6:51798889 A
A
 G
G
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.8303-7516T>C
c.8303-7516T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798889
chr6:51798923 A
A
 G
G
 10 a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0079t0007g0089
others(7): Show 
a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0079t0007g0089
a0004c0006t0002g0048
a0004c0006t0002g0055
a0005c0039t0001g0030
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 10 HG01255.hp1
HG02055.hp1
HG02280.hp1
others(7): Show 
HG01255.hp1
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02818.hp2
HG02970.hp2
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-7550T>C
c.8303-7550T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51798923
chr6:51799120 GAAT
GAAT
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7750_8303-774
others(7): Show 
c.8303-7750_8303-7748delATT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799120
chr6:51799159 C
C
 CCA
CCA
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0011t0005g0134
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 71 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7788_8303-778
others(6): Show 
c.8303-7788_8303-7787dupTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799159
chr6:51799189 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7816T>C
c.8303-7816T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799189
chr6:51799321 CTTCT
CTTCT
 C
C
 112 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(109): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 112 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(109): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-7952_8303-794
others(8): Show 
c.8303-7952_8303-7949delAGAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799321
chr6:51799414 T
T
 A
A
 10 a0001c0019t0001g0118
a0002c0031t0003g0014
a0004c0006t0003g0040
others(7): Show 
a0001c0019t0001g0118
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0046c0067t0003g0112
 10 HG01074.hp1
HG01496.hp2
HG02683.hp2
others(7): Show 
HG01074.hp1
HG01496.hp2
HG02683.hp2
HG03239.hp2
HG03669.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp1
NA19001.hp2
 intron_variant MODIFIER c.8303-8041A>T
c.8303-8041A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799414
chr6:51799545 T
T
 C
C
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-8172A>G
c.8303-8172A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799545
chr6:51799602 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.8303-8229G>A
c.8303-8229G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799602
chr6:51799993 C
C
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-8620G>C
c.8303-8620G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799993
chr6:51799997 A
A
 G
G
 2 a0002c0091t0007g0133
a0008c0018t0020g0074
a0002c0091t0007g0133
a0008c0018t0020g0074
 2 HG03098.hp1
HG03540.hp2
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.8303-8624T>C
c.8303-8624T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51799997
chr6:51800018 T
T
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-8645A>C
c.8303-8645A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800018
chr6:51800090 T
T
 A
A
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.8303-8717A>T
c.8303-8717A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800090
chr6:51800133 G
G
 T
T
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.8303-8760C>A
c.8303-8760C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800133
chr6:51800379 G
G
 GCAA
GCAA
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-9009_8303-900
others(7): Show 
c.8303-9009_8303-9007dupTTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800379
chr6:51800539 C
C
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8303-9166G>T
c.8303-9166G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800539
chr6:51800547 G
G
 A
A
 109 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(106): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 109 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(106): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9174C>T
c.8303-9174C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800547
chr6:51800554 G
G
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9181C>G
c.8303-9181C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800554
chr6:51800747 T
T
 C
C
 2 a0003c0036t0001g0042
a0040c0081t0001g0124
a0003c0036t0001g0042
a0040c0081t0001g0124
 2 HG01496.hp1
NA18971.hp1
HG01496.hp1
NA18971.hp1
 intron_variant MODIFIER c.8303-9374A>G
c.8303-9374A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800747
chr6:51800799 T
T
 C
C
 112 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(109): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 112 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(109): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9426A>G
c.8303-9426A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800799
chr6:51800924 T
T
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9551A>T
c.8303-9551A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800924
chr6:51800980 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9607C>T
c.8303-9607C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800980
chr6:51800998 G
G
 A
A
 35 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(32): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 35 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(32): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9625C>T
c.8303-9625C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51800998
chr6:51801098 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9725C>T
c.8303-9725C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801098
chr6:51801154 C
C
 T
T
 2 a0002c0091t0007g0133
a0008c0018t0020g0074
a0002c0091t0007g0133
a0008c0018t0020g0074
 2 HG03098.hp1
HG03540.hp2
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.8303-9781G>A
c.8303-9781G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801154
chr6:51801185 T
T
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-9812A>G
c.8303-9812A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801185
chr6:51801328 T
T
 G
G
 1 a0034c0085t0004g0096
a0034c0085t0004g0096
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.8303-9955A>C
c.8303-9955A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801328
chr6:51801416 C
C
 T
T
 2 a0002c0091t0007g0133
a0008c0018t0020g0074
a0002c0091t0007g0133
a0008c0018t0020g0074
 2 HG03098.hp1
HG03540.hp2
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.8303-10043G>A
c.8303-10043G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801416
chr6:51801515 A
A
 AT
AT
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-10143dupA
c.8303-10143dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801515
chr6:51801573 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-10200C>T
c.8303-10200C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801573
chr6:51801608 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8303-10235G>A
c.8303-10235G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801608
chr6:51801639 T
T
 TTGTGTGT
others(17): Show 
TTGTGTGTGTGTGTGTGTGTGTGTG
 27 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0009g0099
others(24): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0033
a0007c0003t0001g0008
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0021c0045t0001g0036
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 27 HG00423.hp2
HG00741.hp2
HG01106.hp2
others(24): Show 
HG00423.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG02015.hp1
HG02040.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03704.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-10267_8303-10
others(30): Show 
c.8303-10267_8303-10266insCACACACACACACACACACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801639
chr6:51801639 T
T
 TTGTGTGT
others(19): Show 
TTGTGTGTGTGTGTGTGTGTGTGTGTG
 9 a0001c0002t0001g0117
a0001c0032t0001g0075
a0001c0083t0001g0125
others(6): Show 
a0001c0002t0001g0117
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0004t0003g0126
a0003c0007t0001g0049
a0004c0064t0003g0053
a0016c0090t0001g0120
a0019c0049t0001g0035
a0023c0044t0001g0044
 9 HG00738.hp2
HG01081.hp2
HG01261.hp2
others(6): Show 
HG00738.hp2
HG01081.hp2
HG01261.hp2
HG01952.hp1
HG02698.hp1
HG03239.hp1
HG03669.hp2
HG04184.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-10267_8303-10
others(32): Show 
c.8303-10267_8303-10266insCACACACACACACACACACACACA
CA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801639
chr6:51801639 T
T
 TTGTGTGT
others(21): Show 
TTGTGTGTGTGTGTGTGTGTGTGTGTGTG
 1 a0004c0014t0004g0024
a0004c0014t0004g0024
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.8303-10267_8303-10
others(34): Show 
c.8303-10267_8303-10266insCACACACACACACACACACACACA
CACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801639
chr6:51801639 T
T
 TTGTGTGT
others(33): Show 
TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.8303-10267_8303-10
others(46): Show 
c.8303-10267_8303-10266insCACACACACACACACACACACACA
CACACACACACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801639
chr6:51801639 T
T
 TTGTGTGT
others(37): Show 
TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
 2 a0011c0017t0005g0080
a0037c0060t0005g0022
a0011c0017t0005g0080
a0037c0060t0005g0022
 2 HG02922.hp1
HG03540.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8303-10267_8303-10
others(50): Show 
c.8303-10267_8303-10266insCACACACACACACACACACACACA
CACACACACACACACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801639
chr6:51801639 T
T
 TTGTGTGT
others(39): Show 
TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.8303-10267_8303-10
others(52): Show 
c.8303-10267_8303-10266insCACACACACACACACACACACACA
CACACACACACACACACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801639
chr6:51801639 TTG
TTG
 T
T
 38 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0082t0001g0105
others(35): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0009c0056t0001g0073
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 38 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(35): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-10268_8303-10
others(8): Show 
c.8303-10268_8303-10267delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801639
chr6:51801652 T
T
 TGA
TGA
 2 a0002c0091t0007g0133
a0008c0018t0020g0074
a0002c0091t0007g0133
a0008c0018t0020g0074
 2 HG03098.hp1
HG03540.hp2
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.8303-10280_8303-10
others(8): Show 
c.8303-10280_8303-10279insTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801652
chr6:51801654 T
T
 A
A
 2 a0002c0091t0007g0133
a0008c0018t0020g0074
a0002c0091t0007g0133
a0008c0018t0020g0074
 2 HG03098.hp1
HG03540.hp2
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.8303-10281A>T
c.8303-10281A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801654 T
T
 TGTGTGTG
others(15): Show 
TGTGTGTGTGTGTGTGTGTGAGA
 2 a0002c0005t0002g0018
a0012c0029t0002g0010
a0002c0005t0002g0018
a0012c0029t0002g0010
 2 HG02055.hp2
NA20752.hp1
HG02055.hp2
NA20752.hp1
 intron_variant MODIFIER c.8303-10282_8303-10
others(28): Show 
c.8303-10282_8303-10281insTCTCACACACACACACACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801654 T
T
 TGTGTGTG
others(15): Show 
TGTGTGTGTGTGTGTGTGTGTGA
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.8303-10282_8303-10
others(28): Show 
c.8303-10282_8303-10281insTCACACACACACACACACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801654 T
T
 TGTGTGTG
others(19): Show 
TGTGTGTGTGTGTGTGTGTGTGTGTGA
 19 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(16): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0034t0001g0016
a0001c0061t0001g0064
a0002c0005t0004g0076
a0004c0008t0011g0026
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0011
a0010c0030t0001g0007
a0027c0069t0018g0092
a0032c0058t0001g0070
a0039c0066t0003g0098
a0044c0075t0001g0119
 19 HG01261.hp1
HG02040.hp1
HG02257.hp2
others(16): Show 
HG01261.hp1
HG02040.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02897.hp2
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18964.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
 intron_variant MODIFIER c.8303-10282_8303-10
others(32): Show 
c.8303-10282_8303-10281insTCACACACACACACACACACACAC
AC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801654 T
T
 TGTGTGTG
others(21): Show 
TGTGTGTGTGTGTGTGTGTGTGTGTGAGA
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.8303-10282_8303-10
others(34): Show 
c.8303-10282_8303-10281insTCTCACACACACACACACACACAC
ACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801654 T
T
 TGTGTGTG
others(21): Show 
TGTGTGTGTGTGTGTGTGTGTGTGTGTGA
 3 a0001c0022t0001g0129
a0003c0015t0001g0041
a0004c0043t0015g0057
a0001c0022t0001g0129
a0003c0015t0001g0041
a0004c0043t0015g0057
 3 HG01071.hp1
HG01071.hp2
NA20300.hp2
HG01071.hp1
HG01071.hp2
NA20300.hp2
 intron_variant MODIFIER c.8303-10282_8303-10
others(34): Show 
c.8303-10282_8303-10281insTCACACACACACACACACACACAC
ACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801654 T
T
 TGTGTGTG
others(23): Show 
TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGA
 2 a0003c0041t0001g0046
a0042c0035t0006g0059
a0003c0041t0001g0046
a0042c0035t0006g0059
 2 HG02970.hp1
NA20752.hp2
HG02970.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-10282_8303-10
others(36): Show 
c.8303-10282_8303-10281insTCTCACACACACACACACACACAC
ACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801654 T
T
 TGTGTGTG
others(23): Show 
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA
 1 a0007c0003t0001g0012
a0007c0003t0001g0012
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.8303-10282_8303-10
others(36): Show 
c.8303-10282_8303-10281insTCACACACACACACACACACACAC
ACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801654
chr6:51801656 A
A
 T
T
 2 a0003c0012t0001g0025
a0016c0090t0001g0120
a0003c0012t0001g0025
a0016c0090t0001g0120
 2 HG01081.hp2
HG04204.hp1
HG01081.hp2
HG04204.hp1
 intron_variant MODIFIER c.8303-10283T>A
c.8303-10283T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801656
chr6:51801658 A
A
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8303-10285T>A
c.8303-10285T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801658
chr6:51801833 T
T
 C
C
 38 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0082t0001g0105
others(35): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0009c0054t0001g0082
a0009c0056t0001g0073
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0043c0063t0005g0066
a0045c0084t0006g0087
 38 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(35): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-10460A>G
c.8303-10460A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801833
chr6:51801857 T
T
 C
C
 2 a0002c0091t0007g0133
a0008c0018t0020g0074
a0002c0091t0007g0133
a0008c0018t0020g0074
 2 HG03098.hp1
HG03540.hp2
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.8303-10484A>G
c.8303-10484A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51801857
chr6:51802025 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-10652C>T
c.8303-10652C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802025
chr6:51802028 T
T
 C
C
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.8303-10655A>G
c.8303-10655A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802028
chr6:51802157 GAAATCAG
others(159): Show 
GAAATCAGAGTGGACGACATGGCATTGCCATTTAAACCAAGGTCTATAGT
TGTCACCTTGCTCAGATGGCTCAAGGCAAAAACAACAACAACAACAATCA
AACAAACAAAAAACCTAGACCTTGCAATCCCCAGAAGACCTAAAAAGGAA
CAATATGCATTTTGATA
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10950_8303-10
others(6): Show 
c.8303-10950_8303-10785del
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802157
chr6:51802260 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-10887T>C
c.8303-10887T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802260
chr6:51802325 A
A
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10952T>C
c.8303-10952T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802325
chr6:51802327 T
T
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10954A>T
c.8303-10954A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802327
chr6:51802330 A
A
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10957T>C
c.8303-10957T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802330
chr6:51802333 T
T
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10960A>T
c.8303-10960A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802333
chr6:51802336 G
G
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10963C>A
c.8303-10963C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802336
chr6:51802337 A
A
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10964T>A
c.8303-10964T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802337
chr6:51802339 GTTAAA
GTTAAA
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10971_8303-10
others(11): Show 
c.8303-10971_8303-10967delTTTAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802339
chr6:51802345 C
C
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10972G>T
c.8303-10972G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802345
chr6:51802348 C
C
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10975G>C
c.8303-10975G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802348
chr6:51802351 T
T
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10978A>C
c.8303-10978A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802351
chr6:51802353 TG
TG
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10981delC
c.8303-10981delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802353
chr6:51802356 C
C
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10983G>A
c.8303-10983G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802356
chr6:51802357 T
T
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10984A>T
c.8303-10984A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802357
chr6:51802358 T
T
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10985A>C
c.8303-10985A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802358
chr6:51802359 T
T
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10986A>T
c.8303-10986A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802359
chr6:51802365 C
C
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10992G>C
c.8303-10992G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802365
chr6:51802369 A
A
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10996T>A
c.8303-10996T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802369
chr6:51802371 T
T
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10998A>T
c.8303-10998A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802371
chr6:51802372 C
C
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-10999G>A
c.8303-10999G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802372
chr6:51802374 A
A
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11001T>C
c.8303-11001T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802374
chr6:51802377 ACCT
ACCT
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11007_8303-11
others(9): Show 
c.8303-11007_8303-11005delAGG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802377
chr6:51802382 T
T
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11009A>T
c.8303-11009A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802382
chr6:51802385 ACATT
ACATT
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11016_8303-11
others(10): Show 
c.8303-11016_8303-11013delAATG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802385
chr6:51802393 AAT
AAT
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11022_8303-11
others(8): Show 
c.8303-11022_8303-11021delAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802393
chr6:51802401 C
C
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11028G>C
c.8303-11028G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802401
chr6:51802403 A
A
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11030T>C
c.8303-11030T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802403
chr6:51802405 C
C
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-11032G>T
c.8303-11032G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802405
chr6:51802408 ACATGAGG
others(2120): Show 
ACATGAGGTTTGGAGATAAAATCCCTCTCCAATCCTGTAGTGAATAATGC
TTAATATGTGAAAAGGCATAAACTGGCAACTCTCAGGTGATCCAATTATT
AAATTTTTACATGTTACAGTTGGTGTTAAAGCCAAACTAAGCGCCAAACT
TATTTTCCTATGTGGGTTTTTGTTTTGATTTGTTTCCTTAAGAATAATAA
CATGATCAACTTTTAGTAAATAAATATATTTTGTACTTTTACCCTGAATA
GAAAAATATGAATATCTATGAAATAAGTGATTCACTCCTGAACGGTGCTG
TTTAGGCAAAGGTCCAGATATCAAATATTGTATCAAATAAGTTTATTTCT
CCCCATCAGGTCTTTTTTGAAAATAAATCTTCTCTTTTTGTCTCTGCTTG
ACACTAGACAGGGCAATATATCCAAAAAACTATGAGATTCTTTAATTTTC
CTCGGTATTATTGACTTTTTTTCTTAAGTTCTCAATTGTTTCTTCTGCAG
GAAAAGAAACCCAAAAGATTATTAAAATCTTAAAAATAAGATGCTTGTAT
CCTATTTGTTTGTTAAATATACATATATTATATCAATTATAATTGATGTT
TAAGAGAGAGTTTAAAATGTAGTATCTGAGTAACAAATATTTAGTAAATA
ATCTCTACTTTCTATTTTAATATGTTGTACCAAAATTTATATTTTCTGAG
CAAACCAATCTATATGTTGTGCTCCTAAATTAATAAAGTGCTTATATTTT
ATAAAGTACAAAATAACTTCTGTAGAAGTTGTCATTGTTCTCAATATTTT
TATATTTTCCATATTTTTTGGAAAGTCCCCAAAAATTAACTCCCTTAAAA
GTCTTCTTGTAAATTCCAGTAAATTACATGTATTCAAAGCAAGGAGTTCT
TGCTTGGGGTTTCCAAAATATGTTATTTTCCACTTGAATTCGAATATTGT
CCCAGAGATCATGAAGGTTCCTAGAATGTTTATTCACAATTCTAACTATT
CTAACAATAATATCTGGATTCTACAACCTCTATCAAAAGTCCCAATACTC
TAAAATATCCTTGCTTGGTAAACATACTGAAATCCTTGTCCTTAGAGTTA
ATTCCTCTTTTTAATCCAAGATGACTAGAAGACCCCAGGAGAAAAATGAT
ATATAAAGAAAAGGTATTATCACTGACCAATACATTTGCTCATTCATCCA
TTCATTCACTTAGCAAATACTACCAAGTGCTTTGTCAGACACTGTGATAT
ATGCCAAAGAAACAAACATAAATAAAACAAGGCTCCTACTTCACATAGAG
AAGAAATTTTTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGA
GTGCAATGGTGCGATCTTGGCTCACTGTAATCTCCGCCACCTGGGTTCAA
GCAATTCTCTTGCCTCAGCTTCCCTAGTAGCTGGGATTACAGGTGCCCAT
CACCACGCCTGGCTAAAGTTTTGTATTATTAGTAGAGATGGGGTTTCACC
ATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCC
TCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGTAATGAA
ATTGATGGGATGAGTTTTGGAAGAACAAAGAAGTAGATGTGAAGTCCTTT
TAGTATTTGCTTGTGATACCCACCAAAATGATCATGGCAAAGCCCAGGCA
ACATTTCAAAGTAAAAAAGACTATGTCTGTTTCTTCCTACTTTCGAGTGC
CCATCCATCTCTGATAAACTACTGACCTCATTTGCTCATAACTACCAAAT
GGCCAGAATCCCACTGATGCCCAACCACCAACAGTCCACACAGATGAAGG
GTCTCAGTAGTTCTATAGTTCCAGTAATTTCTCAGCTGTGTCCCAAGTCC
CTCTAGGCTCAACTCACTTATACATGACTAAGTAGAGAAATACTAATTCA
TTGGGGGGGGGGGGGGCGGTAACAGGAGAAATTAAGCGAAATGCCACATA
AAAAATTATTACAGTGGCTGGCACATAAAAGGCATTCAATTATCAGCTAT
TGTTTTCATATGCCCAACATGTAGCTTGGAGTACTTGCTCTATACCTGTC
ACTTCGCTATTGTGTGAACCAAAGAGAC
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13162_8303-11
others(6): Show 
c.8303-13162_8303-11036del
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802408
chr6:51802421 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-11048T>C
c.8303-11048T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802421
chr6:51802700 C
C
 A
A
 105 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(102): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 105 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(102): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-11327G>T
c.8303-11327G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802700
chr6:51802784 A
A
 G
G
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.8303-11411T>C
c.8303-11411T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802784
chr6:51802980 ATATAT
ATATAT
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-11612_8303-11
others(11): Show 
c.8303-11612_8303-11608delATATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51802980
chr6:51803005 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-11632C>A
c.8303-11632C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803005
chr6:51803040 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-11667T>C
c.8303-11667T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803040
chr6:51803337 C
C
 T
T
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.8303-11964G>A
c.8303-11964G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803337
chr6:51803414 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-12041T>C
c.8303-12041T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803414
chr6:51803467 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12094G>A
c.8303-12094G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803467
chr6:51803472 T
T
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12099A>T
c.8303-12099A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803472
chr6:51803543 C
C
 G
G
 3 a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
 3 HG01255.hp1
HG02818.hp2
HG02970.hp2
HG01255.hp1
HG02818.hp2
HG02970.hp2
 intron_variant MODIFIER c.8303-12170G>C
c.8303-12170G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803543
chr6:51803596 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12223G>A
c.8303-12223G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803596
chr6:51803692 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12319G>A
c.8303-12319G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803692
chr6:51803756 G
G
 A
A
 4 a0001c0094t0001g0131
a0011c0017t0005g0071
a0011c0017t0005g0080
others(1): Show 
a0001c0094t0001g0131
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 4 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(1): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8303-12383C>T
c.8303-12383C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803756
chr6:51803758 G
G
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12385C>G
c.8303-12385C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803758
chr6:51803760 G
G
 A
A
 2 a0001c0002t0001g0083
a0002c0020t0003g0084
a0001c0002t0001g0083
a0002c0020t0003g0084
 2 NA18975.hp1
NA18989.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.8303-12387C>T
c.8303-12387C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803760
chr6:51803792 C
C
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.8303-12419G>A
c.8303-12419G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803792
chr6:51803856 A
A
 G
G
 104 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(101): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 104 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(101): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12483T>C
c.8303-12483T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51803856
chr6:51804070 G
G
 C
C
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 72 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12697C>G
c.8303-12697C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804070
chr6:51804151 C
C
 T
T
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 72 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12778G>A
c.8303-12778G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804151
chr6:51804172 T
T
 G
G
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 72 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12799A>C
c.8303-12799A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804172
chr6:51804196 T
T
 C
C
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 72 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12823A>G
c.8303-12823A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804196
chr6:51804242 T
T
 C
C
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 72 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-12869A>G
c.8303-12869A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804242
chr6:51804342 G
G
 C
C
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.8303-12969C>G
c.8303-12969C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804342
chr6:51804353 A
A
 C
C
 67 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(64): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0044c0075t0001g0119
 67 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(64): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-12980T>G
c.8303-12980T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804353
chr6:51804359 T
T
 TGG
TGG
 16 a0001c0002t0001g0117
a0001c0009t0001g0123
a0001c0034t0001g0016
others(13): Show 
a0001c0002t0001g0117
a0001c0009t0001g0123
a0001c0034t0001g0016
a0002c0080t0002g0121
a0003c0012t0001g0025
a0004c0014t0004g0024
a0004c0014t0004g0033
a0005c0039t0001g0030
a0007c0003t0001g0006
a0007c0003t0001g0012
a0010c0026t0001g0013
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0040c0081t0001g0124
a0044c0075t0001g0119
 16 HG00738.hp2
HG01081.hp1
HG01081.hp2
others(13): Show 
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01433.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02717.hp2
HG02818.hp2
HG04204.hp1
NA18971.hp1
NA18975.hp2
NA19001.hp1
NA19003.hp1
NA19007.hp1
NA19007.hp2
 intron_variant MODIFIER c.8303-12988_8303-12
others(8): Show 
c.8303-12988_8303-12987dupCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804359
chr6:51804359 T
T
 TGGG
TGGG
 20 a0001c0001t0001g0019
a0001c0002t0001g0107
a0001c0002t0009g0100
others(17): Show 
a0001c0001t0001g0019
a0001c0002t0001g0107
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0061t0001g0064
a0002c0004t0003g0126
a0002c0092t0004g0002
a0003c0007t0001g0049
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0064t0003g0053
a0008c0018t0020g0074
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0024c0068t0001g0091
a0027c0069t0018g0092
 20 HG01071.hp1
HG01261.hp2
HG01496.hp1
others(17): Show 
HG01071.hp1
HG01261.hp2
HG01496.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp2
NA18988.hp1
NA18988.hp2
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-12989_8303-12
others(9): Show 
c.8303-12989_8303-12987dupCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804359
chr6:51804359 TG
TG
 T
T
 14 a0001c0010t0001g0077
a0002c0020t0008g0110
a0002c0031t0003g0014
others(11): Show 
a0001c0010t0001g0077
a0002c0020t0008g0110
a0002c0031t0003g0014
a0003c0013t0001g0054
a0003c0048t0001g0047
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0006c0011t0005g0063
a0009c0087t0001g0111
a0014c0024t0001g0004
a0022c0042t0002g0051
a0036c0074t0003g0108
a0038c0062t0002g0065
 14 HG01106.hp2
HG01243.hp1
HG01496.hp2
others(11): Show 
HG01106.hp2
HG01243.hp1
HG01496.hp2
HG02486.hp2
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03239.hp2
HG03471.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
NA19001.hp2
NA19240.hp2
 intron_variant MODIFIER c.8303-12987delC
c.8303-12987delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804359
chr6:51804368 G
G
 C
C
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-12995C>G
c.8303-12995C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804368
chr6:51804369 GGGGGC
GGGGGC
 G
G
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-13001_8303-12
others(11): Show 
c.8303-13001_8303-12997delGCCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804369
chr6:51804373 GC
GC
 G
G
 7 a0001c0032t0001g0075
a0001c0094t0001g0131
a0002c0004t0010g0101
others(4): Show 
a0001c0032t0001g0075
a0001c0094t0001g0131
a0002c0004t0010g0101
a0011c0017t0005g0071
a0011c0017t0005g0080
a0028c0071t0012g0093
a0029c0070t0008g0090
 7 HG00741.hp1
HG01175.hp1
HG02280.hp2
others(4): Show 
HG00741.hp1
HG01175.hp1
HG02280.hp2
HG02683.hp1
HG02809.hp1
HG03540.hp1
HG04184.hp1
 intron_variant MODIFIER c.8303-13001delG
c.8303-13001delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804373
chr6:51804374 C
C
 G
G
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 66 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02698.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-13001G>C
c.8303-13001G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804374
chr6:51804432 A
A
 G
G
 77 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(74): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 77 HG00423.hp2
HG00738.hp2
HG00741.hp1
others(74): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13059T>C
c.8303-13059T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804432
chr6:51804538 AG
AG
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13166delC
c.8303-13166delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804538
chr6:51804544 T
T
 A
A
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13171A>T
c.8303-13171A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804544
chr6:51804546 G
G
 GAAC
GAAC
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13174_8303-13
others(9): Show 
c.8303-13174_8303-13173insGTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804546
chr6:51804548 C
C
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13175G>A
c.8303-13175G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804548
chr6:51804553 GAA
GAA
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13182_8303-13
others(8): Show 
c.8303-13182_8303-13181delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804553
chr6:51804559 TAA
TAA
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13188_8303-13
others(8): Show 
c.8303-13188_8303-13187delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804559
chr6:51804562 A
A
 T
T
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13189T>A
c.8303-13189T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804562
chr6:51804563 A
A
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13190T>C
c.8303-13190T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804563
chr6:51804564 T
T
 C
C
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8303-13191A>G
c.8303-13191A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804564
chr6:51804576 A
A
 T
T
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-13203T>A
c.8303-13203T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804576
chr6:51804602 A
A
 AATTT
AATTT
 55 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(52): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 55 HG00738.hp2
HG00741.hp2
HG01071.hp1
others(52): Show 
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA19003.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13230_8303-13
others(10): Show 
c.8303-13230_8303-13229insAAAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804602
chr6:51804764 C
C
 T
T
 55 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(52): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 55 HG00738.hp2
HG00741.hp2
HG01071.hp1
others(52): Show 
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA19003.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13391G>A
c.8303-13391G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804764
chr6:51804765 G
G
 A
A
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8303-13392C>T
c.8303-13392C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804765
chr6:51804801 G
G
 A
A
 55 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(52): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 55 HG00738.hp2
HG00741.hp2
HG01071.hp1
others(52): Show 
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA19003.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13428C>T
c.8303-13428C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804801
chr6:51804958 G
G
 GA
GA
 54 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(51): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 54 HG00738.hp2
HG00741.hp2
HG01071.hp1
others(51): Show 
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA19003.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13586dupT
c.8303-13586dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804958
chr6:51804965 G
G
 A
A
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8303-13592C>T
c.8303-13592C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804965
chr6:51804986 C
C
 T
T
 2 a0003c0007t0001g0049
a0019c0049t0001g0035
a0003c0007t0001g0049
a0019c0049t0001g0035
 2 HG01261.hp2
HG02698.hp1
HG01261.hp2
HG02698.hp1
 intron_variant MODIFIER c.8303-13613G>A
c.8303-13613G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51804986
chr6:51805176 T
T
 C
C
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 72 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13803A>G
c.8303-13803A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805176
chr6:51805344 A
A
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13971T>G
c.8303-13971T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805344
chr6:51805358 C
C
 CAG
CAG
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-13986_8303-13
others(8): Show 
c.8303-13986_8303-13985insCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805358
chr6:51805418 A
A
 G
G
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-14045T>C
c.8303-14045T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805418
chr6:51805418 A
A
 T
T
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.8303-14045T>A
c.8303-14045T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805418
chr6:51805456 C
C
 G
G
 40 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(37): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 40 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(37): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.8303-14083G>C
c.8303-14083G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805456
chr6:51805524 A
A
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14151T>G
c.8303-14151T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805524
chr6:51805682 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14309T>C
c.8303-14309T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805682
chr6:51805714 G
G
 T
T
 67 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(64): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0054t0001g0082
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
 67 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(64): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14341C>A
c.8303-14341C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805714
chr6:51805744 T
T
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14371A>G
c.8303-14371A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805744
chr6:51805771 G
G
 A
A
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.8303-14398C>T
c.8303-14398C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805771
chr6:51805799 C
C
 T
T
 111 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(108): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 111 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(108): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14426G>A
c.8303-14426G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805799
chr6:51805858 T
T
 C
C
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.8303-14485A>G
c.8303-14485A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805858
chr6:51805872 T
T
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14499A>G
c.8303-14499A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805872
chr6:51805880 G
G
 A
A
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.8303-14507C>T
c.8303-14507C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805880
chr6:51805950 C
C
 T
T
 61 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(58): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 61 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14577G>A
c.8303-14577G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805950
chr6:51805989 T
T
 C
C
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.8303-14616A>G
c.8303-14616A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805989
chr6:51805993 G
G
 A
A
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14620C>T
c.8303-14620C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51805993
chr6:51806010 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14637T>C
c.8303-14637T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806010
chr6:51806070 T
T
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14697A>G
c.8303-14697A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806070
chr6:51806129 C
C
 T
T
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.8303-14756G>A
c.8303-14756G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806129
chr6:51806227 A
A
 AT
AT
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14855_8303-14
others(7): Show 
c.8303-14855_8303-14854insA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806227
chr6:51806363 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-14990T>C
c.8303-14990T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806363
chr6:51806380 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15007T>C
c.8303-15007T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806380
chr6:51806472 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15099T>C
c.8303-15099T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806472
chr6:51806523 T
T
 A
A
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15150A>T
c.8303-15150A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806523
chr6:51806552 C
C
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15179G>C
c.8303-15179G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806552
chr6:51806673 C
C
 G
G
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8303-15300G>C
c.8303-15300G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806673
chr6:51806694 G
G
 A
A
 3 a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
 3 HG01255.hp1
HG02818.hp2
HG02970.hp2
HG01255.hp1
HG02818.hp2
HG02970.hp2
 intron_variant MODIFIER c.8303-15321C>T
c.8303-15321C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806694
chr6:51806695 GT
GT
 G
G
 61 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(58): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0048c0023t0017g0081
 61 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15323delA
c.8303-15323delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806695
chr6:51806710 A
A
 G
G
 132 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(129): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 132 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(129): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15337T>C
c.8303-15337T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806710
chr6:51806818 T
T
 G
G
 112 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(109): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 112 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(109): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15445A>C
c.8303-15445A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51806818
chr6:51807011 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-15638T>C
c.8303-15638T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807011
chr6:51807015 T
T
 C
C
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.8303-15642A>G
c.8303-15642A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807015
chr6:51807176 G
G
 A
A
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.8303-15803C>T
c.8303-15803C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807176
chr6:51807208 A
A
 AC
AC
 58 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(55): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 58 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(55): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15836dupG
c.8303-15836dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807208
chr6:51807263 C
C
 T
T
 58 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(55): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 58 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(55): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-15890G>A
c.8303-15890G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807263
chr6:51807306 C
C
 T
T
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8303-15933G>A
c.8303-15933G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807306
chr6:51807386 C
C
 T
T
 61 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(58): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 61 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16013G>A
c.8303-16013G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807386
chr6:51807437 C
C
 CA
CA
 10 a0001c0002t0001g0083
a0001c0093t0001g0127
a0002c0020t0003g0084
others(7): Show 
a0001c0002t0001g0083
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0077t0002g0102
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0025c0072t0001g0095
 10 HG00738.hp1
HG01074.hp2
HG01255.hp2
others(7): Show 
HG00738.hp1
HG01074.hp2
HG01255.hp2
HG01433.hp1
HG02257.hp1
HG03098.hp2
HG06807.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8303-16065dupT
c.8303-16065dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807437
chr6:51807437 C
C
 CAA
CAA
 9 a0001c0022t0001g0132
a0002c0021t0004g0130
a0003c0013t0001g0052
others(6): Show 
a0001c0022t0001g0132
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0017c0089t0002g0116
a0018c0052t0006g0086
a0035c0086t0001g0109
a0045c0084t0006g0087
 9 HG01243.hp2
HG01952.hp2
HG02015.hp2
others(6): Show 
HG01243.hp2
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG03041.hp1
HG03139.hp1
HG03704.hp2
NA18971.hp2
 intron_variant MODIFIER c.8303-16066_8303-16
others(8): Show 
c.8303-16066_8303-16065dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807437
chr6:51807437 CAA
CAA
 C
C
 13 a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0010t0001g0078
others(10): Show 
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0010t0001g0078
a0001c0094t0001g0131
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0011c0017t0005g0080
a0037c0060t0005g0022
a0044c0075t0001g0119
 13 HG01261.hp1
HG02809.hp1
HG02922.hp1
others(10): Show 
HG01261.hp1
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG03540.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA20300.hp2
 intron_variant MODIFIER c.8303-16066_8303-16
others(8): Show 
c.8303-16066_8303-16065delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807437
chr6:51807437 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 2 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0037
a0003c0007t0001g0043
 2 HG00741.hp2
HG01175.hp2
HG00741.hp2
HG01175.hp2
 intron_variant MODIFIER c.8303-16074_8303-16
others(16): Show 
c.8303-16074_8303-16065delTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807437
chr6:51807450 A
A
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8303-16077T>A
c.8303-16077T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807450
chr6:51807450 AAAAAAAA
others(3): Show 
AAAAAAAAAAT
 A
A
 3 a0002c0004t0003g0085
a0003c0007t0001g0049
a0004c0014t0004g0033
a0002c0004t0003g0085
a0003c0007t0001g0049
a0004c0014t0004g0033
 3 HG01261.hp2
HG02015.hp1
HG02155.hp2
HG01261.hp2
HG02015.hp1
HG02155.hp2
 intron_variant MODIFIER c.8303-16087_8303-16
others(16): Show 
c.8303-16087_8303-16078delATTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807450
chr6:51807451 AAAAAAAA
others(4): Show 
AAAAAAAAATAT
 A
A
 2 a0001c0002t0001g0107
a0002c0004t0003g0126
a0001c0002t0001g0107
a0002c0004t0003g0126
 2 HG03239.hp1
NA19054.hp1
HG03239.hp1
NA19054.hp1
 intron_variant MODIFIER c.8303-16089_8303-16
others(17): Show 
c.8303-16089_8303-16079delATATTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807451
chr6:51807451 AAAAAAAA
others(6): Show 
AAAAAAAAATATAT
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8303-16091_8303-16
others(19): Show 
c.8303-16091_8303-16079delATATATTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807451
chr6:51807452 A
A
 T
T
 8 a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0083t0001g0125
a0004c0008t0011g0026
a0027c0069t0018g0092
a0039c0066t0003g0098
 8 HG02257.hp2
HG02451.hp1
HG02717.hp2
others(5): Show 
HG02257.hp2
HG02451.hp1
HG02717.hp2
HG02897.hp2
HG03225.hp1
HG06807.hp1
NA18964.hp2
NA20129.hp1
 intron_variant MODIFIER c.8303-16079T>A
c.8303-16079T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807452
chr6:51807452 AAAAAAAA
others(3): Show 
AAAAAAAATAT
 A
A
 21 a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0019t0001g0097
others(18): Show 
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0012t0001g0025
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0064t0003g0053
a0010c0026t0001g0013
a0013c0095t0014g0122
a0016c0090t0001g0120
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 21 HG00738.hp2
HG01081.hp1
HG01081.hp2
others(18): Show 
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02040.hp2
HG02055.hp2
HG02683.hp1
HG03225.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16089_8303-16
others(16): Show 
c.8303-16089_8303-16080delATATTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807452
chr6:51807454 A
A
 ATATAT
ATATAT
 2 a0002c0079t0007g0089
a0042c0035t0006g0059
a0002c0079t0007g0089
a0042c0035t0006g0059
 2 HG01255.hp1
HG02970.hp1
HG01255.hp1
HG02970.hp1
 intron_variant MODIFIER c.8303-16082_8303-16
others(11): Show 
c.8303-16082_8303-16081insATATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807454
chr6:51807454 A
A
 T
T
 22 a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0060
others(19): Show 
a0001c0001t0001g0019
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0083t0001g0125
a0003c0041t0001g0046
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0006c0078t0005g0104
a0007c0003t0001g0008
a0009c0056t0001g0073
a0027c0069t0018g0092
a0028c0071t0012g0093
a0031c0057t0013g0067
a0032c0058t0001g0070
a0039c0066t0003g0098
a0041c0088t0006g0114
 22 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(19): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG02040.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG06807.hp1
NA18964.hp2
NA18988.hp1
NA19090.hp1
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-16081T>A
c.8303-16081T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807454
chr6:51807454 AAAAAATA
others(3): Show 
AAAAAATATAT
 A
A
 2 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0002t0009g0099
a0001c0002t0009g0100
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.8303-16091_8303-16
others(16): Show 
c.8303-16091_8303-16082delATATATTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807454
chr6:51807456 A
A
 T
T
 44 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(41): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0079t0007g0089
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0029t0002g0010
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
 44 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(41): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-16083T>A
c.8303-16083T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807456
chr6:51807458 A
A
 T
T
 55 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(52): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0079t0007g0089
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
 55 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(52): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-16085T>A
c.8303-16085T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807458
chr6:51807459 AT
AT
 A
A
 2 a0008c0053t0016g0069
a0047c0051t0004g0056
a0008c0053t0016g0069
a0047c0051t0004g0056
 2 HG02965.hp2
HG03139.hp2
HG02965.hp2
HG03139.hp2
 intron_variant MODIFIER c.8303-16087delA
c.8303-16087delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807459
chr6:51807460 T
T
 A
A
 20 a0001c0002t0001g0083
a0002c0020t0003g0084
a0002c0021t0004g0128
others(17): Show 
a0001c0002t0001g0083
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0063
a0017c0089t0002g0116
a0022c0042t0002g0051
a0025c0072t0001g0095
a0035c0086t0001g0109
a0038c0062t0002g0065
a0045c0084t0006g0087
 20 HG00738.hp1
HG01074.hp2
HG01243.hp2
others(17): Show 
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp2
HG01952.hp2
HG02257.hp1
HG02486.hp2
HG02698.hp2
HG02809.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03540.hp2
HG03704.hp2
HG06807.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8303-16087A>T
c.8303-16087A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807460
chr6:51807462 T
T
 A
A
 2 a0006c0011t0005g0063
a0038c0062t0002g0065
a0006c0011t0005g0063
a0038c0062t0002g0065
 2 HG02809.hp2
HG03041.hp2
HG02809.hp2
HG03041.hp2
 intron_variant MODIFIER c.8303-16089A>T
c.8303-16089A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807462
chr6:51807467 A
A
 G
G
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.8303-16094T>C
c.8303-16094T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807467
chr6:51807469 A
A
 ATATG
ATATG
 7 a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0022t0001g0129
a0003c0041t0001g0046
a0006c0078t0005g0104
a0039c0066t0003g0098
 7 HG01071.hp1
HG02257.hp2
HG02451.hp1
others(4): Show 
HG01071.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG03225.hp1
HG06807.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-16097_8303-16
others(10): Show 
c.8303-16097_8303-16096insCATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807469
chr6:51807469 A
A
 G
G
 2 a0001c0082t0001g0105
a0029c0070t0008g0090
a0001c0082t0001g0105
a0029c0070t0008g0090
 2 HG01175.hp1
HG02970.hp2
HG01175.hp1
HG02970.hp2
 intron_variant MODIFIER c.8303-16096T>C
c.8303-16096T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807469
chr6:51807471 A
A
 ATG
ATG
 5 a0004c0008t0011g0026
a0004c0043t0015g0057
a0009c0056t0001g0073
others(2): Show 
a0004c0008t0011g0026
a0004c0043t0015g0057
a0009c0056t0001g0073
a0028c0071t0012g0093
a0031c0057t0013g0067
 5 HG00741.hp1
HG01071.hp2
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01071.hp2
HG02896.hp1
HG03486.hp1
NA18964.hp2
 intron_variant MODIFIER c.8303-16099_8303-16
others(8): Show 
c.8303-16099_8303-16098insCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807471
chr6:51807471 A
A
 G
G
 3 a0001c0083t0001g0125
a0002c0079t0007g0089
a0033c0059t0008g0001
a0001c0083t0001g0125
a0002c0079t0007g0089
a0033c0059t0008g0001
 3 HG01255.hp1
HG03471.hp2
NA20129.hp1
HG01255.hp1
HG03471.hp2
NA20129.hp1
 intron_variant MODIFIER c.8303-16098T>C
c.8303-16098T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807471
chr6:51807473 A
A
 G
G
 10 a0001c0034t0001g0016
a0001c0094t0001g0131
a0005c0037t0001g0038
others(7): Show 
a0001c0034t0001g0016
a0001c0094t0001g0131
a0005c0037t0001g0038
a0007c0003t0001g0008
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0027c0069t0018g0092
a0032c0058t0001g0070
a0037c0060t0005g0022
 10 HG01106.hp1
HG02040.hp1
HG02280.hp2
others(7): Show 
HG01106.hp1
HG02040.hp1
HG02280.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp1
HG03516.hp1
HG03540.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.8303-16100T>C
c.8303-16100T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807473
chr6:51807475 A
A
 G
G
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0029c0070t0008g0090
a0034c0085t0004g0096
a0044c0075t0001g0119
 12 HG00423.hp1
HG01175.hp1
HG01261.hp1
others(9): Show 
HG00423.hp1
HG01175.hp1
HG01261.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA20300.hp2
 intron_variant MODIFIER c.8303-16102T>C
c.8303-16102T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807475
chr6:51807477 A
A
 G
G
 7 a0005c0039t0001g0030
a0009c0056t0001g0073
a0028c0071t0012g0093
others(4): Show 
a0005c0039t0001g0030
a0009c0056t0001g0073
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0048c0023t0017g0081
 7 HG00741.hp1
HG01175.hp1
HG02622.hp1
others(4): Show 
HG00741.hp1
HG01175.hp1
HG02622.hp1
HG02818.hp2
HG02896.hp1
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.8303-16104T>C
c.8303-16104T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807477
chr6:51807479 A
A
 ATATATG
ATATATG
 2 a0002c0005t0002g0021
a0004c0006t0002g0048
a0002c0005t0002g0021
a0004c0006t0002g0048
 2 HG02055.hp1
HG03486.hp2
HG02055.hp1
HG03486.hp2
 intron_variant MODIFIER c.8303-16107_8303-16
others(12): Show 
c.8303-16107_8303-16106insCATATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807479
chr6:51807479 A
A
 ATATATGT
others(3): Show 
ATATATGTGTG
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.8303-16107_8303-16
others(16): Show 
c.8303-16107_8303-16106insCACACATATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807479
chr6:51807479 A
A
 ATATGTG
ATATGTG
 2 a0005c0037t0001g0038
a0027c0069t0018g0092
a0005c0037t0001g0038
a0027c0069t0018g0092
 2 HG01106.hp1
HG02897.hp2
HG01106.hp1
HG02897.hp2
 intron_variant MODIFIER c.8303-16107_8303-16
others(12): Show 
c.8303-16107_8303-16106insCACATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807479
chr6:51807479 A
A
 ATATGTGT
others(3): Show 
ATATGTGTGTG
 2 a0004c0006t0002g0055
a0030c0055t0002g0072
a0004c0006t0002g0055
a0030c0055t0002g0072
 2 HG02818.hp1
HG03516.hp2
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.8303-16107_8303-16
others(16): Show 
c.8303-16107_8303-16106insCACACACATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807479
chr6:51807479 A
A
 G
G
 20 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(17): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0004t0004g0115
a0003c0041t0001g0046
a0006c0078t0005g0104
a0007c0003t0001g0008
a0009c0056t0001g0073
a0010c0028t0001g0009
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0039c0066t0003g0098
 20 HG00741.hp1
HG01071.hp1
HG01175.hp1
others(17): Show 
HG00741.hp1
HG01071.hp1
HG01175.hp1
HG02040.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG06807.hp1
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.8303-16106T>C
c.8303-16106T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807479
chr6:51807481 G
G
 A
A
 6 a0002c0004t0004g0115
a0005c0039t0001g0030
a0009c0054t0001g0082
others(3): Show 
a0002c0004t0004g0115
a0005c0039t0001g0030
a0009c0054t0001g0082
a0010c0028t0001g0009
a0012c0029t0002g0010
a0048c0023t0017g0081
 6 HG02622.hp1
HG02818.hp2
HG02976.hp2
others(3): Show 
HG02622.hp1
HG02818.hp2
HG02976.hp2
NA19090.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.8303-16108C>T
c.8303-16108C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807481
chr6:51807483 A
A
 G
G
 48 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(45): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0079t0007g0089
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
 48 HG00423.hp1
HG00741.hp1
HG01071.hp1
others(45): Show 
HG00423.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-16110T>C
c.8303-16110T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807483
chr6:51807485 A
A
 ATG
ATG
 5 a0001c0019t0001g0118
a0002c0021t0004g0128
a0003c0048t0001g0047
others(2): Show 
a0001c0019t0001g0118
a0002c0021t0004g0128
a0003c0048t0001g0047
a0006c0011t0005g0063
a0045c0084t0006g0087
 5 HG00738.hp1
HG02486.hp2
HG02809.hp2
others(2): Show 
HG00738.hp1
HG02486.hp2
HG02809.hp2
HG03041.hp1
NA18964.hp1
 intron_variant MODIFIER c.8303-16114_8303-16
others(8): Show 
c.8303-16114_8303-16113dupCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807485
chr6:51807485 A
A
 ATGTG
ATGTG
 8 a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
others(5): Show 
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0006c0011t0005g0134
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0043c0063t0005g0066
 8 HG02257.hp1
HG02717.hp1
HG03098.hp2
others(5): Show 
HG02257.hp1
HG02717.hp1
HG03098.hp2
HG03139.hp1
HG06807.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-16116_8303-16
others(10): Show 
c.8303-16116_8303-16113dupCACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807485
chr6:51807485 A
A
 ATGTGTG
ATGTGTG
 9 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(6): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0130
a0003c0013t0001g0052
a0005c0040t0001g0029
a0017c0089t0002g0116
a0035c0086t0001g0109
 9 HG01074.hp2
HG01243.hp2
HG01433.hp1
others(6): Show 
HG01074.hp2
HG01243.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
NA18971.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.8303-16118_8303-16
others(12): Show 
c.8303-16118_8303-16113dupCACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807485
chr6:51807485 A
A
 ATGTGTGT
others(3): Show 
ATGTGTGTGTG
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8303-16122_8303-16
others(16): Show 
c.8303-16122_8303-16113dupCACACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807485
chr6:51807485 A
A
 ATGTGTGT
others(5): Show 
ATGTGTGTGTGTG
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.8303-16124_8303-16
others(18): Show 
c.8303-16124_8303-16113dupCACACACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807485
chr6:51807485 A
A
 G
G
 49 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(46): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0079t0007g0089
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
 49 HG00423.hp1
HG00741.hp1
HG01071.hp1
others(46): Show 
HG00423.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG02040.hp1
HG02055.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8303-16112T>C
c.8303-16112T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807485
chr6:51807487 G
G
 A
A
 36 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(33): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 36 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(33): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16114C>T
c.8303-16114C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807487
chr6:51807489 G
G
 A
A
 34 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(31): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 34 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(31): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16116C>T
c.8303-16116C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807489
chr6:51807617 G
G
 C
C
 61 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(58): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 61 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16244C>G
c.8303-16244C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807617
chr6:51807651 A
A
 G
G
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8303-16278T>C
c.8303-16278T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807651
chr6:51807674 T
T
 C
C
 61 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(58): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 61 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16301A>G
c.8303-16301A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807674
chr6:51807732 A
A
 G
G
 61 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(58): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 61 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16359T>C
c.8303-16359T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807732
chr6:51807742 T
T
 G
G
 61 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(58): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 61 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16369A>C
c.8303-16369A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807742
chr6:51807812 A
A
 G
G
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8303-16439T>C
c.8303-16439T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807812
chr6:51807966 G
G
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8303-16593C>T
c.8303-16593C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51807966
chr6:51808038 A
A
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16665T>A
c.8303-16665T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808038
chr6:51808140 T
T
 C
C
 4 a0001c0094t0001g0131
a0011c0017t0005g0071
a0011c0017t0005g0080
others(1): Show 
a0001c0094t0001g0131
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 4 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(1): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8303-16767A>G
c.8303-16767A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808140
chr6:51808273 C
C
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16900G>A
c.8303-16900G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808273
chr6:51808285 C
C
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16912G>C
c.8303-16912G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808285
chr6:51808301 A
A
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-16928T>G
c.8303-16928T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808301
chr6:51808503 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-17130T>C
c.8303-17130T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808503
chr6:51808512 TCA
TCA
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-17141_8303-17
others(8): Show 
c.8303-17141_8303-17140delTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808512
chr6:51808552 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-17179T>C
c.8303-17179T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808552
chr6:51808641 C
C
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-17268G>A
c.8303-17268G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808641
chr6:51808738 A
A
 C
C
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8303-17365T>G
c.8303-17365T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808738
chr6:51808775 C
C
 T
T
 2 a0006c0011t0005g0134
a0018c0052t0006g0086
a0006c0011t0005g0134
a0018c0052t0006g0086
 2 HG03139.hp1
NA19240.hp1
HG03139.hp1
NA19240.hp1
 intron_variant MODIFIER c.8303-17402G>A
c.8303-17402G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808775
chr6:51808886 C
C
 A
A
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.8303-17513G>T
c.8303-17513G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808886
chr6:51808886 C
C
 T
T
 109 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(106): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 109 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(106): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-17513G>A
c.8303-17513G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51808886
chr6:51809141 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-17768T>C
c.8303-17768T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809141
chr6:51809188 C
C
 T
T
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.8303-17815G>A
c.8303-17815G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809188
chr6:51809274 G
G
 A
A
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.8303-17901C>T
c.8303-17901C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809274
chr6:51809338 C
C
 T
T
 2 a0003c0048t0001g0047
a0006c0011t0005g0063
a0003c0048t0001g0047
a0006c0011t0005g0063
 2 HG02486.hp2
HG02809.hp2
HG02486.hp2
HG02809.hp2
 intron_variant MODIFIER c.8303-17965G>A
c.8303-17965G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809338
chr6:51809363 T
T
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-17990A>G
c.8303-17990A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809363
chr6:51809376 G
G
 A
A
 4 a0001c0094t0001g0131
a0011c0017t0005g0071
a0011c0017t0005g0080
others(1): Show 
a0001c0094t0001g0131
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 4 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(1): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.8303-18003C>T
c.8303-18003C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809376
chr6:51809415 C
C
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18042G>A
c.8303-18042G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809415
chr6:51809468 C
C
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18095G>A
c.8303-18095G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809468
chr6:51809503 A
A
 G
G
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.8303-18130T>C
c.8303-18130T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809503
chr6:51809528 G
G
 A
A
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8303-18155C>T
c.8303-18155C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809528
chr6:51809543 G
G
 A
A
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.8303-18170C>T
c.8303-18170C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809543
chr6:51809597 A
A
 G
G
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18224T>C
c.8303-18224T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809597
chr6:51809645 G
G
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18272C>A
c.8303-18272C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809645
chr6:51809683 T
T
 G
G
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.8303-18310A>C
c.8303-18310A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809683
chr6:51809720 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8303-18347G>A
c.8303-18347G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809720
chr6:51809780 A
A
 G
G
 132 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(129): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 132 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(129): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18407T>C
c.8303-18407T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809780
chr6:51809859 AT
AT
 A
A
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18487delA
c.8303-18487delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809859
chr6:51809871 G
G
 GA
GA
 57 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(54): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 57 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(54): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18499dupT
c.8303-18499dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51809871
chr6:51810285 G
G
 A
A
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-18912C>T
c.8303-18912C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51810285
chr6:51810410 T
T
 C
C
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-19037A>G
c.8303-19037A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51810410
chr6:51810454 C
C
 A
A
 3 a0004c0006t0002g0055
a0030c0055t0002g0072
a0041c0088t0006g0114
a0004c0006t0002g0055
a0030c0055t0002g0072
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp1
HG03516.hp2
HG02280.hp1
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.8303-19081G>T
c.8303-19081G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51810454
chr6:51810812 C
C
 T
T
 60 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0078t0005g0104
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0032c0058t0001g0070
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
 60 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8303-19439G>A
c.8303-19439G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51810812
chr6:51810830 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.8303-19457C>T
c.8303-19457C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51810830
chr6:51811134 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8302+19727G>A
c.8302+19727G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811134
chr6:51811160 G
G
 A
A
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.8302+19701C>T
c.8302+19701C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811160
chr6:51811247 T
T
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8302+19614A>C
c.8302+19614A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811247
chr6:51811504 T
T
 C
C
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.8302+19357A>G
c.8302+19357A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811504
chr6:51811514 A
A
 C
C
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8302+19347T>G
c.8302+19347T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811514
chr6:51811549 G
G
 A
A
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+19312C>T
c.8302+19312C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811549
chr6:51811779 A
A
 G
G
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+19082T>C
c.8302+19082T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811779
chr6:51811804 A
A
 T
T
 48 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(45): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 48 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(45): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+19057T>A
c.8302+19057T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811804
chr6:51811855 A
A
 G
G
 2 a0003c0048t0001g0047
a0006c0011t0005g0063
a0003c0048t0001g0047
a0006c0011t0005g0063
 2 HG02486.hp2
HG02809.hp2
HG02486.hp2
HG02809.hp2
 intron_variant MODIFIER c.8302+19006T>C
c.8302+19006T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811855
chr6:51811887 T
T
 C
C
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+18974A>G
c.8302+18974A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811887
chr6:51811891 A
A
 G
G
 7 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(4): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0009c0054t0001g0082
a0030c0055t0002g0072
a0041c0088t0006g0114
 7 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(4): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG02976.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8302+18970T>C
c.8302+18970T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51811891
chr6:51812004 T
T
 G
G
 121 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(118): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 121 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(118): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+18857A>C
c.8302+18857A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812004
chr6:51812119 C
C
 T
T
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.8302+18742G>A
c.8302+18742G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812119
chr6:51812124 C
C
 A
A
 15 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(12): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0022t0001g0129
a0001c0061t0001g0064
a0003c0041t0001g0046
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0027c0069t0018g0092
a0032c0058t0001g0070
a0039c0066t0003g0098
 15 HG01071.hp1
HG01071.hp2
HG01106.hp1
others(12): Show 
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18964.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+18737G>T
c.8302+18737G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812124
chr6:51812178 A
A
 T
T
 110 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(107): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 110 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(107): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+18683T>A
c.8302+18683T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812178
chr6:51812179 A
A
 C
C
 110 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(107): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 110 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(107): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+18682T>G
c.8302+18682T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812179
chr6:51812180 T
T
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8302+18681A>G
c.8302+18681A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812180
chr6:51812201 C
C
 A
A
 47 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(44): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 47 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(44): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+18660G>T
c.8302+18660G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812201
chr6:51812285 T
T
 G
G
 109 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(106): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 109 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(106): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+18576A>C
c.8302+18576A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812285
chr6:51812415 T
T
 C
C
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+18446A>G
c.8302+18446A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812415
chr6:51812637 G
G
 C
C
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+18224C>G
c.8302+18224C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812637
chr6:51812776 C
C
 A
A
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.8302+18085G>T
c.8302+18085G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812776
chr6:51812807 C
C
 T
T
 47 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(44): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 47 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(44): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02896.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+18054G>A
c.8302+18054G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812807
chr6:51812997 T
T
 A
A
 2 a0002c0021t0004g0128
a0025c0072t0001g0095
a0002c0021t0004g0128
a0025c0072t0001g0095
 2 HG00738.hp1
HG06807.hp2
HG00738.hp1
HG06807.hp2
 intron_variant MODIFIER c.8302+17864A>T
c.8302+17864A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51812997
chr6:51813066 T
T
 C
C
 118 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(115): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 118 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+17795A>G
c.8302+17795A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813066
chr6:51813134 C
C
 T
T
 2 a0003c0048t0001g0047
a0006c0011t0005g0063
a0003c0048t0001g0047
a0006c0011t0005g0063
 2 HG02486.hp2
HG02809.hp2
HG02486.hp2
HG02809.hp2
 intron_variant MODIFIER c.8302+17727G>A
c.8302+17727G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813134
chr6:51813219 T
T
 C
C
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+17642A>G
c.8302+17642A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813219
chr6:51813366 C
C
 T
T
 25 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(22): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0002c0031t0003g0014
a0002c0091t0007g0133
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0032c0058t0001g0070
a0039c0066t0003g0098
a0046c0067t0003g0112
 25 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(22): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01496.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp2
HG02717.hp2
HG02965.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+17495G>A
c.8302+17495G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813366
chr6:51813708 G
G
 C
C
 31 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(28): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0078t0005g0104
a0009c0054t0001g0082
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0032c0058t0001g0070
a0039c0066t0003g0098
a0046c0067t0003g0112
 31 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(28): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp2
HG02717.hp2
HG02818.hp2
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+17153C>G
c.8302+17153C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813708
chr6:51813805 T
T
 TA
TA
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+17055dupT
c.8302+17055dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813805
chr6:51813833 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8302+17028A>G
c.8302+17028A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813833
chr6:51813883 T
T
 C
C
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.8302+16978A>G
c.8302+16978A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51813883
chr6:51814224 G
G
 T
T
 37 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(34): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 37 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(34): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+16637C>A
c.8302+16637C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814224
chr6:51814296 A
A
 T
T
 1 a0007c0003t0001g0008
a0007c0003t0001g0008
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.8302+16565T>A
c.8302+16565T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814296
chr6:51814503 C
C
 G
G
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+16358G>C
c.8302+16358G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814503
chr6:51814723 G
G
 A
A
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8302+16138C>T
c.8302+16138C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814723
chr6:51814851 G
G
 A
A
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.8302+16010C>T
c.8302+16010C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814851
chr6:51814869 C
C
 T
T
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.8302+15992G>A
c.8302+15992G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814869
chr6:51814965 T
T
 C
C
 46 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(43): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
 46 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(43): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+15896A>G
c.8302+15896A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814965
chr6:51814999 G
G
 T
T
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.8302+15862C>A
c.8302+15862C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51814999
chr6:51815120 C
C
 T
T
 46 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(43): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
 46 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(43): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+15741G>A
c.8302+15741G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815120
chr6:51815276 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8302+15585G>A
c.8302+15585G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815276
chr6:51815319 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8302+15542T>C
c.8302+15542T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815319
chr6:51815377 T
T
 G
G
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 73 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(70): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+15484A>C
c.8302+15484A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815377
chr6:51815412 C
C
 T
T
 11 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(8): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0044c0075t0001g0119
 11 HG01261.hp1
HG02040.hp1
HG04184.hp2
others(8): Show 
HG01261.hp1
HG02040.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.8302+15449G>A
c.8302+15449G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815412
chr6:51815573 A
A
 G
G
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+15288T>C
c.8302+15288T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815573
chr6:51815623 C
C
 T
T
 9 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(6): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0020t0008g0110
a0002c0065t0007g0068
a0003c0013t0001g0054
a0003c0048t0001g0047
a0006c0011t0005g0063
a0009c0087t0001g0111
 9 HG01243.hp1
HG02486.hp2
HG02622.hp2
others(6): Show 
HG01243.hp1
HG02486.hp2
HG02622.hp2
HG02809.hp2
HG02922.hp2
HG02976.hp1
HG03453.hp2
HG03471.hp1
NA19240.hp2
 intron_variant MODIFIER c.8302+15238G>A
c.8302+15238G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815623
chr6:51815676 C
C
 T
T
 3 a0002c0020t0008g0110
a0002c0065t0007g0068
a0009c0087t0001g0111
a0002c0020t0008g0110
a0002c0065t0007g0068
a0009c0087t0001g0111
 3 HG01243.hp1
HG03453.hp2
HG03471.hp1
HG01243.hp1
HG03453.hp2
HG03471.hp1
 intron_variant MODIFIER c.8302+15185G>A
c.8302+15185G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815676
chr6:51815677 G
G
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8302+15184C>T
c.8302+15184C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815677
chr6:51815763 T
T
 A
A
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 73 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(70): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+15098A>T
c.8302+15098A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815763
chr6:51815793 A
A
 C
C
 6 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(3): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0030c0055t0002g0072
a0041c0088t0006g0114
 6 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(3): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8302+15068T>G
c.8302+15068T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815793
chr6:51815884 T
T
 C
C
 1 a0001c0010t0001g0077
a0001c0010t0001g0077
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.8302+14977A>G
c.8302+14977A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51815884
chr6:51816182 G
G
 A
A
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+14679C>T
c.8302+14679C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51816182
chr6:51816288 T
T
 C
C
 2 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0058
a0001c0001t0001g0062
 2 HG02257.hp2
HG03225.hp1
HG02257.hp2
HG03225.hp1
 intron_variant MODIFIER c.8302+14573A>G
c.8302+14573A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51816288
chr6:51816315 A
A
 G
G
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+14546T>C
c.8302+14546T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51816315
chr6:51816342 C
C
 T
T
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+14519G>A
c.8302+14519G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51816342
chr6:51816381 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8302+14480G>A
c.8302+14480G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51816381
chr6:51816671 G
G
 C
C
 74 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(71): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 74 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(71): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+14190C>G
c.8302+14190C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51816671
chr6:51817018 G
G
 A
A
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8302+13843C>T
c.8302+13843C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817018
chr6:51817073 T
T
 TC
TC
 74 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(71): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 74 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(71): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+13787dupG
c.8302+13787dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817073
chr6:51817100 C
C
 A
A
 1 a0003c0012t0001g0025
a0003c0012t0001g0025
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.8302+13761G>T
c.8302+13761G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817100
chr6:51817140 C
C
 T
T
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+13721G>A
c.8302+13721G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817140
chr6:51817155 GT
GT
 G
G
 118 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(115): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 118 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+13705delA
c.8302+13705delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817155
chr6:51817334 G
G
 GA
GA
 108 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(105): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 108 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(105): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+13526dupT
c.8302+13526dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817334
chr6:51817334 G
G
 GAA
GAA
 11 a0001c0019t0001g0118
a0001c0093t0001g0127
a0002c0031t0003g0014
others(8): Show 
a0001c0019t0001g0118
a0001c0093t0001g0127
a0002c0031t0003g0014
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0005c0040t0001g0029
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0046c0067t0003g0112
 11 HG01074.hp1
HG01074.hp2
HG01433.hp1
others(8): Show 
HG01074.hp1
HG01074.hp2
HG01433.hp1
HG01496.hp2
HG02683.hp2
HG03669.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp1
NA19001.hp2
 intron_variant MODIFIER c.8302+13525_8302+13
others(8): Show 
c.8302+13525_8302+13526dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817334
chr6:51817602 T
T
 G
G
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.8302+13259A>C
c.8302+13259A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817602
chr6:51817611 C
C
 T
T
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 73 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(70): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+13250G>A
c.8302+13250G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817611
chr6:51817619 G
G
 A
A
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.8302+13242C>T
c.8302+13242C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817619
chr6:51817625 G
G
 A
A
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+13236C>T
c.8302+13236C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817625
chr6:51817729 A
A
 G
G
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8302+13132T>C
c.8302+13132T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817729
chr6:51817839 CCCCT
CCCCT
 C
C
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+13018_8302+13
others(10): Show 
c.8302+13018_8302+13021delAGGG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51817839
chr6:51818019 A
A
 G
G
 36 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(33): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0054t0001g0082
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0032c0058t0001g0070
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 36 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(33): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+12842T>C
c.8302+12842T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818019
chr6:51818168 C
C
 T
T
 45 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(42): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
 45 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(42): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+12693G>A
c.8302+12693G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818168
chr6:51818364 C
C
 T
T
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.8302+12497G>A
c.8302+12497G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818364
chr6:51818427 AG
AG
 A
A
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 15 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(12): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.8302+12433delC
c.8302+12433delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818427
chr6:51818528 T
T
 C
C
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+12333A>G
c.8302+12333A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818528
chr6:51818576 G
G
 A
A
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+12285C>T
c.8302+12285C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818576
chr6:51818708 C
C
 T
T
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+12153G>A
c.8302+12153G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818708
chr6:51818755 G
G
 T
T
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+12106C>A
c.8302+12106C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51818755
chr6:51819008 T
T
 G
G
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+11853A>C
c.8302+11853A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819008
chr6:51819076 A
A
 C
C
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+11785T>G
c.8302+11785T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819076
chr6:51819187 A
A
 G
G
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8302+11674T>C
c.8302+11674T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819187
chr6:51819190 C
C
 T
T
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8302+11671G>A
c.8302+11671G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819190
chr6:51819215 G
G
 T
T
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+11646C>A
c.8302+11646C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819215
chr6:51819242 A
A
 G
G
 3 a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
 3 HG01255.hp1
HG02818.hp2
HG02970.hp2
HG01255.hp1
HG02818.hp2
HG02970.hp2
 intron_variant MODIFIER c.8302+11619T>C
c.8302+11619T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819242
chr6:51819452 C
C
 A
A
 36 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(33): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0054t0001g0082
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0032c0058t0001g0070
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 36 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(33): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+11409G>T
c.8302+11409G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819452
chr6:51819562 C
C
 T
T
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 15 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(12): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.8302+11299G>A
c.8302+11299G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819562
chr6:51819651 C
C
 T
T
 36 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(33): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 36 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(33): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+11210G>A
c.8302+11210G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819651
chr6:51819782 C
C
 A
A
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+11079G>T
c.8302+11079G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819782
chr6:51819896 G
G
 A
A
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+10965C>T
c.8302+10965C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51819896
chr6:51820130 A
A
 C
C
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8302+10731T>G
c.8302+10731T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51820130
chr6:51820193 CA
CA
 C
C
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+10667delT
c.8302+10667delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51820193
chr6:51820281 A
A
 C
C
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+10580T>G
c.8302+10580T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51820281
chr6:51820430 G
G
 T
T
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 73 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(70): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+10431C>A
c.8302+10431C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51820430
chr6:51820557 A
A
 T
T
 119 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(116): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 119 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(116): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+10304T>A
c.8302+10304T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51820557
chr6:51820715 C
C
 T
T
 45 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(42): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
 45 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(42): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+10146G>A
c.8302+10146G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51820715
chr6:51820878 T
T
 C
C
 47 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(44): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0036c0074t0003g0108
a0037c0060t0005g0022
a0040c0081t0001g0124
a0042c0035t0006g0059
 47 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(44): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8302+9983A>G
c.8302+9983A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51820878
chr6:51821283 G
G
 A
A
 36 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(33): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0054t0001g0082
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0032c0058t0001g0070
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 36 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(33): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+9578C>T
c.8302+9578C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821283
chr6:51821455 C
C
 T
T
 43 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(40): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 43 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(40): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+9406G>A
c.8302+9406G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821455
chr6:51821504 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8302+9357C>T
c.8302+9357C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821504
chr6:51821607 C
C
 T
T
 7 a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
others(4): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0037c0060t0005g0022
 7 HG02280.hp2
HG02809.hp1
HG02897.hp2
others(4): Show 
HG02280.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.8302+9254G>A
c.8302+9254G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821607
chr6:51821613 C
C
 T
T
 2 a0003c0048t0001g0047
a0006c0011t0005g0063
a0003c0048t0001g0047
a0006c0011t0005g0063
 2 HG02486.hp2
HG02809.hp2
HG02486.hp2
HG02809.hp2
 intron_variant MODIFIER c.8302+9248G>A
c.8302+9248G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821613
chr6:51821831 C
C
 T
T
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+9030G>A
c.8302+9030G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821831
chr6:51821869 T
T
 C
C
 2 a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0008t0011g0026
a0004c0043t0015g0057
 2 HG01071.hp2
NA18964.hp2
HG01071.hp2
NA18964.hp2
 intron_variant MODIFIER c.8302+8992A>G
c.8302+8992A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821869
chr6:51821884 A
A
 G
G
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+8977T>C
c.8302+8977T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821884
chr6:51821929 C
C
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.8302+8932G>A
c.8302+8932G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821929
chr6:51821938 C
C
 T
T
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8302+8923G>A
c.8302+8923G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821938
chr6:51821982 T
T
 A
A
 27 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(24): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0002c0031t0003g0014
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0006c0078t0005g0104
a0009c0054t0001g0082
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0032c0058t0001g0070
a0039c0066t0003g0098
a0046c0067t0003g0112
 27 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(24): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01496.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp2
HG02717.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+8879A>T
c.8302+8879A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821982
chr6:51821987 G
G
 A
A
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8302+8874C>T
c.8302+8874C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821987
chr6:51821997 C
C
 T
T
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+8864G>A
c.8302+8864G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51821997
chr6:51822212 A
A
 G
G
 6 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(3): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0030c0055t0002g0072
a0041c0088t0006g0114
 6 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(3): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8302+8649T>C
c.8302+8649T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822212
chr6:51822339 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8302+8522G>A
c.8302+8522G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822339
chr6:51822354 C
C
 T
T
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.8302+8507G>A
c.8302+8507G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822354
chr6:51822479 A
A
 C
C
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+8382T>G
c.8302+8382T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822479
chr6:51822497 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8302+8364G>A
c.8302+8364G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822497
chr6:51822754 C
C
 T
T
 6 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(3): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0030c0055t0002g0072
a0041c0088t0006g0114
 6 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(3): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8302+8107G>A
c.8302+8107G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822754
chr6:51822956 C
C
 T
T
 27 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(24): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0002c0031t0003g0014
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0006c0078t0005g0104
a0009c0054t0001g0082
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0032c0058t0001g0070
a0039c0066t0003g0098
a0046c0067t0003g0112
 27 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(24): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01496.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp2
HG02717.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+7905G>A
c.8302+7905G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822956
chr6:51822965 T
T
 C
C
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+7896A>G
c.8302+7896A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51822965
chr6:51823015 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8302+7846T>C
c.8302+7846T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823015
chr6:51823086 A
A
 G
G
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.8302+7775T>C
c.8302+7775T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823086
chr6:51823093 C
C
 CA
CA
 34 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(31): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0031t0003g0014
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0046c0067t0003g0112
 34 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(31): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01496.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+7767dupT
c.8302+7767dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823093
chr6:51823093 CA
CA
 C
C
 14 a0001c0002t0001g0107
a0001c0002t0009g0099
a0001c0002t0009g0100
others(11): Show 
a0001c0002t0001g0107
a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0077t0002g0102
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0055
a0010c0028t0001g0009
a0017c0089t0002g0116
a0024c0068t0001g0091
a0029c0070t0008g0090
a0030c0055t0002g0072
a0033c0059t0008g0001
a0041c0088t0006g0114
 14 HG01175.hp1
HG01243.hp2
HG01255.hp2
others(11): Show 
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG02280.hp1
HG02698.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp2
HG03704.hp2
NA19054.hp1
NA20129.hp2
 intron_variant MODIFIER c.8302+7767delT
c.8302+7767delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823093
chr6:51823184 A
A
 G
G
 4 a0002c0077t0002g0102
a0003c0016t0001g0027
a0003c0016t0001g0028
others(1): Show 
a0002c0077t0002g0102
a0003c0016t0001g0027
a0003c0016t0001g0028
a0017c0089t0002g0116
 4 HG01243.hp2
HG01255.hp2
HG02698.hp2
others(1): Show 
HG01243.hp2
HG01255.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.8302+7677T>C
c.8302+7677T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823184
chr6:51823200 A
A
 G
G
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.8302+7661T>C
c.8302+7661T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823200
chr6:51823201 C
C
 T
T
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+7660G>A
c.8302+7660G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823201
chr6:51823214 G
G
 T
T
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8302+7647C>A
c.8302+7647C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823214
chr6:51823273 A
A
 G
G
 43 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(40): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 43 HG01071.hp1
HG01074.hp1
HG01106.hp1
others(40): Show 
HG01071.hp1
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+7588T>C
c.8302+7588T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823273
chr6:51823564 G
G
 A
A
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+7297C>T
c.8302+7297C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823564
chr6:51823614 C
C
 T
T
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.8302+7247G>A
c.8302+7247G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823614
chr6:51823626 G
G
 A
A
 85 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(82): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 85 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(82): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+7235C>T
c.8302+7235C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823626
chr6:51823674 T
T
 A
A
 1 a0003c0012t0001g0032
a0003c0012t0001g0032
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.8302+7187A>T
c.8302+7187A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823674
chr6:51823709 C
C
 T
T
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+7152G>A
c.8302+7152G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823709
chr6:51823870 G
G
 A
A
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+6991C>T
c.8302+6991C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823870
chr6:51823957 C
C
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8302+6904G>T
c.8302+6904G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823957
chr6:51823988 T
T
 C
C
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
 intron_variant MODIFIER c.8302+6873A>G
c.8302+6873A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51823988
chr6:51824221 T
T
 A
A
 1 a0007c0003t0001g0012
a0007c0003t0001g0012
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.8302+6640A>T
c.8302+6640A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824221
chr6:51824405 G
G
 A
A
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.8302+6456C>T
c.8302+6456C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824405
chr6:51824565 T
T
 C
C
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+6296A>G
c.8302+6296A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824565
chr6:51824586 A
A
 G
G
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.8302+6275T>C
c.8302+6275T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824586
chr6:51824665 TC
TC
 T
T
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+6195delG
c.8302+6195delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824665
chr6:51824703 C
C
 G
G
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.8302+6158G>C
c.8302+6158G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824703
chr6:51824718 C
C
 T
T
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+6143G>A
c.8302+6143G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824718
chr6:51824798 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8302+6063C>T
c.8302+6063C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824798
chr6:51824828 C
C
 G
G
 45 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 45 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(42): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+6033G>C
c.8302+6033G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824828
chr6:51824994 C
C
 T
T
 2 a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0008t0011g0026
a0004c0043t0015g0057
 2 HG01071.hp2
NA18964.hp2
HG01071.hp2
NA18964.hp2
 intron_variant MODIFIER c.8302+5867G>A
c.8302+5867G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51824994
chr6:51825215 G
G
 A
A
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.8302+5646C>T
c.8302+5646C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51825215
chr6:51825252 C
C
 A
A
 6 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(3): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0006c0076t0005g0088
a0030c0055t0002g0072
a0041c0088t0006g0114
 6 HG02055.hp1
HG02280.hp1
HG02486.hp1
others(3): Show 
HG02055.hp1
HG02280.hp1
HG02486.hp1
HG02818.hp1
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8302+5609G>T
c.8302+5609G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51825252
chr6:51825290 C
C
 T
T
 2 a0006c0011t0005g0134
a0018c0052t0006g0086
a0006c0011t0005g0134
a0018c0052t0006g0086
 2 HG03139.hp1
NA19240.hp1
HG03139.hp1
NA19240.hp1
 intron_variant MODIFIER c.8302+5571G>A
c.8302+5571G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51825290
chr6:51825310 G
G
 T
T
 40 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(37): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0009t0001g0106
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 40 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(37): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02155.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03471.hp2
HG03540.hp2
HG03704.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+5551C>A
c.8302+5551C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51825310
chr6:51825400 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8302+5461G>A
c.8302+5461G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51825400
chr6:51825669 G
G
 A
A
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8302+5192C>T
c.8302+5192C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51825669
chr6:51826090 G
G
 GC
GC
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+4770_8302+477
others(5): Show 
c.8302+4770_8302+4771insG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826090
chr6:51826092 A
A
 G
G
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+4769T>C
c.8302+4769T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826092
chr6:51826147 A
A
 C
C
 35 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(32): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0031t0003g0014
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0046c0067t0003g0112
 35 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(32): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01496.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+4714T>G
c.8302+4714T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826147
chr6:51826160 C
C
 G
G
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 66 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(63): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01496.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+4701G>C
c.8302+4701G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826160
chr6:51826167 A
A
 C
C
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+4694T>G
c.8302+4694T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826167
chr6:51826167 A
A
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8302+4694T>A
c.8302+4694T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826167
chr6:51826229 T
T
 G
G
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.8302+4632A>C
c.8302+4632A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826229
chr6:51826423 C
C
 T
T
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+4438G>A
c.8302+4438G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826423
chr6:51826515 G
G
 A
A
 2 a0002c0004t0003g0126
a0004c0064t0003g0053
a0002c0004t0003g0126
a0004c0064t0003g0053
 2 HG03239.hp1
HG03669.hp2
HG03239.hp1
HG03669.hp2
 intron_variant MODIFIER c.8302+4346C>T
c.8302+4346C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826515
chr6:51826635 A
A
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+4226T>C
c.8302+4226T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826635
chr6:51826684 C
C
 T
T
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+4177G>A
c.8302+4177G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826684
chr6:51826834 G
G
 A
A
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+4027C>T
c.8302+4027C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826834
chr6:51826872 T
T
 G
G
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.8302+3989A>C
c.8302+3989A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51826872
chr6:51827002 C
C
 T
T
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.8302+3859G>A
c.8302+3859G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827002
chr6:51827020 A
A
 G
G
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8302+3841T>C
c.8302+3841T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827020
chr6:51827157 A
A
 T
T
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+3704T>A
c.8302+3704T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827157
chr6:51827371 T
T
 C
C
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+3490A>G
c.8302+3490A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827371
chr6:51827559 A
A
 C
C
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0012c0029t0002g0010
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.8302+3302T>G
c.8302+3302T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827559
chr6:51827638 T
T
 C
C
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+3223A>G
c.8302+3223A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827638
chr6:51827714 T
T
 C
C
 1 a0001c0061t0001g0064
a0001c0061t0001g0064
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.8302+3147A>G
c.8302+3147A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827714
chr6:51827792 T
T
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+3069A>G
c.8302+3069A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827792
chr6:51827805 G
G
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+3056C>G
c.8302+3056C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827805
chr6:51827830 T
T
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+3031A>C
c.8302+3031A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827830
chr6:51827874 C
C
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2987G>A
c.8302+2987G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827874
chr6:51827886 G
G
 A
A
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2975C>T
c.8302+2975C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51827886
chr6:51828066 T
T
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2795A>G
c.8302+2795A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828066
chr6:51828157 G
G
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8302+2704C>T
c.8302+2704C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828157
chr6:51828254 A
A
 C
C
 72 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(69): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
 72 HG00423.hp1
HG00738.hp1
HG01071.hp1
others(69): Show 
HG00423.hp1
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2607T>G
c.8302+2607T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828254
chr6:51828325 G
G
 T
T
 7 a0001c0002t0001g0083
a0001c0093t0001g0127
a0002c0020t0003g0084
others(4): Show 
a0001c0002t0001g0083
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0004c0046t0002g0050
a0005c0040t0001g0029
a0025c0072t0001g0095
 7 HG00738.hp1
HG01074.hp2
HG01433.hp1
others(4): Show 
HG00738.hp1
HG01074.hp2
HG01433.hp1
HG06807.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
 intron_variant MODIFIER c.8302+2536C>A
c.8302+2536C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828325
chr6:51828380 GA
GA
 G
G
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+2480delT
c.8302+2480delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828380
chr6:51828460 T
T
 A
A
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2401A>T
c.8302+2401A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828460
chr6:51828508 C
C
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2353G>C
c.8302+2353G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828508
chr6:51828576 A
A
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2285T>G
c.8302+2285T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828576
chr6:51828732 C
C
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+2129G>A
c.8302+2129G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828732
chr6:51828907 C
C
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+1954G>A
c.8302+1954G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828907
chr6:51828938 T
T
 C
C
 42 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(39): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 42 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(39): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8302+1923A>G
c.8302+1923A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51828938
chr6:51829301 A
A
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+1560T>C
c.8302+1560T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829301
chr6:51829311 GAC
GAC
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+1548_8302+154
others(6): Show 
c.8302+1548_8302+1549delGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829311
chr6:51829338 A
A
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+1523T>C
c.8302+1523T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829338
chr6:51829384 C
C
 T
T
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.8302+1477G>A
c.8302+1477G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829384
chr6:51829422 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8302+1439G>A
c.8302+1439G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829422
chr6:51829481 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8302+1380G>A
c.8302+1380G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829481
chr6:51829531 T
T
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+1330A>G
c.8302+1330A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829531
chr6:51829708 A
A
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+1153T>A
c.8302+1153T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829708
chr6:51829798 G
G
 A
A
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.8302+1063C>T
c.8302+1063C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829798
chr6:51829941 T
T
 G
G
 5 a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
others(2): Show 
a0002c0005t0002g0021
a0004c0006t0002g0048
a0004c0006t0002g0055
a0030c0055t0002g0072
a0041c0088t0006g0114
 5 HG02055.hp1
HG02280.hp1
HG02818.hp1
others(2): Show 
HG02055.hp1
HG02280.hp1
HG02818.hp1
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8302+920A>C
c.8302+920A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829941
chr6:51829954 G
G
 A
A
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+907C>T
c.8302+907C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51829954
chr6:51830048 A
A
 T
T
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+813T>A
c.8302+813T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830048
chr6:51830108 T
T
 C
C
 65 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(62): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 65 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(62): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01496.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+753A>G
c.8302+753A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830108
chr6:51830266 G
G
 GA
GA
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 66 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(63): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01496.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+594dupT
c.8302+594dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830266
chr6:51830415 C
C
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+446G>C
c.8302+446G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830415
chr6:51830505 ATTG
ATTG
 A
A
 2 a0002c0005t0002g0021
a0004c0006t0002g0048
a0002c0005t0002g0021
a0004c0006t0002g0048
 2 HG02055.hp1
HG03486.hp2
HG02055.hp1
HG03486.hp2
 intron_variant MODIFIER c.8302+353_8302+355d
others(5): Show 
c.8302+353_8302+355delCAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830505
chr6:51830772 T
T
 A
A
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+89A>T
c.8302+89A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830772
chr6:51830843 T
T
 C
C
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8302+18A>G
c.8302+18A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830843
chr6:51830849 A
A
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8302+12T>A
c.8302+12T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 52/66 chr6 51830849
chr6:51831007 A
A
 T
T
 3 a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
a0001c0082t0001g0105
a0002c0079t0007g0089
a0005c0039t0001g0030
 3 HG01255.hp1
HG02818.hp2
HG02970.hp2
HG01255.hp1
HG02818.hp2
HG02970.hp2
 intron_variant MODIFIER c.8174-18T>A
c.8174-18T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831007
chr6:51831038 C
C
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8174-49G>C
c.8174-49G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831038
chr6:51831101 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8174-112T>C
c.8174-112T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831101
chr6:51831161 C
C
 G
G
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8174-172G>C
c.8174-172G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831161
chr6:51831207 A
A
 G
G
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8174-218T>C
c.8174-218T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831207
chr6:51831248 G
G
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8174-259C>A
c.8174-259C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831248
chr6:51831258 A
A
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-269T>C
c.8174-269T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831258
chr6:51831276 G
G
 A
A
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-287C>T
c.8174-287C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831276
chr6:51831313 C
C
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8174-324G>C
c.8174-324G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831313
chr6:51831324 T
T
 A
A
 8 a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0079t0007g0089
others(5): Show 
a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0079t0007g0089
a0004c0006t0002g0048
a0004c0006t0002g0055
a0005c0039t0001g0030
a0030c0055t0002g0072
a0041c0088t0006g0114
 8 HG01255.hp1
HG02055.hp1
HG02280.hp1
others(5): Show 
HG01255.hp1
HG02055.hp1
HG02280.hp1
HG02818.hp1
HG02818.hp2
HG02970.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.8174-335A>T
c.8174-335A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831324
chr6:51831384 T
T
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8174-395A>G
c.8174-395A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831384
chr6:51831387 T
T
 C
C
 5 a0001c0094t0001g0131
a0009c0056t0001g0073
a0011c0017t0005g0071
others(2): Show 
a0001c0094t0001g0131
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 5 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.8174-398A>G
c.8174-398A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831387
chr6:51831470 A
A
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-481T>C
c.8174-481T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831470
chr6:51831557 A
A
 T
T
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 66 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(63): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01496.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-568T>A
c.8174-568T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831557
chr6:51831696 C
C
 T
T
 2 a0001c0083t0001g0125
a0027c0069t0018g0092
a0001c0083t0001g0125
a0027c0069t0018g0092
 2 HG02897.hp2
NA20129.hp1
HG02897.hp2
NA20129.hp1
 intron_variant MODIFIER c.8174-707G>A
c.8174-707G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831696
chr6:51831784 G
G
 A
A
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 89 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-795C>T
c.8174-795C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831784
chr6:51831877 G
G
 T
T
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 89 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-888C>A
c.8174-888C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831877
chr6:51831931 G
G
 A
A
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.8174-942C>T
c.8174-942C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831931
chr6:51831958 A
A
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-969T>G
c.8174-969T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51831958
chr6:51832038 A
A
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-1049T>A
c.8174-1049T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832038
chr6:51832071 A
A
 G
G
 42 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(39): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 42 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(39): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8174-1082T>C
c.8174-1082T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832071
chr6:51832161 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8174-1172C>T
c.8174-1172C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832161
chr6:51832372 G
G
 A
A
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.8174-1383C>T
c.8174-1383C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832372
chr6:51832382 T
T
 A
A
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-1393A>T
c.8174-1393A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832382
chr6:51832535 C
C
 G
G
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.8174-1546G>C
c.8174-1546G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832535
chr6:51832604 C
C
 T
T
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.8174-1615G>A
c.8174-1615G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832604
chr6:51832769 T
T
 C
C
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 66 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(63): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01496.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-1780A>G
c.8174-1780A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832769
chr6:51832860 T
T
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-1871A>G
c.8174-1871A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832860
chr6:51832865 G
G
 C
C
 1 a0002c0004t0003g0126
a0002c0004t0003g0126
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.8174-1876C>G
c.8174-1876C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832865
chr6:51832873 A
A
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-1884T>C
c.8174-1884T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832873
chr6:51832880 T
T
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-1891A>G
c.8174-1891A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832880
chr6:51832911 A
A
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8174-1922T>C
c.8174-1922T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51832911
chr6:51833169 T
T
 G
G
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-2180A>C
c.8174-2180A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833169
chr6:51833186 C
C
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-2197G>A
c.8174-2197G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833186
chr6:51833260 T
T
 A
A
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8174-2271A>T
c.8174-2271A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833260
chr6:51833417 T
T
 C
C
 27 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(24): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0002c0031t0003g0014
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0006c0078t0005g0104
a0009c0054t0001g0082
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0032c0058t0001g0070
a0039c0066t0003g0098
a0046c0067t0003g0112
 27 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(24): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01496.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp2
HG02717.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.8174-2428A>G
c.8174-2428A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833417
chr6:51833501 T
T
 A
A
 2 a0001c0083t0001g0125
a0027c0069t0018g0092
a0001c0083t0001g0125
a0027c0069t0018g0092
 2 HG02897.hp2
NA20129.hp1
HG02897.hp2
NA20129.hp1
 intron_variant MODIFIER c.8174-2512A>T
c.8174-2512A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833501
chr6:51833503 G
G
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8174-2514C>T
c.8174-2514C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833503
chr6:51833526 GT
GT
 G
G
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8174-2538delA
c.8174-2538delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833526
chr6:51833562 T
T
 C
C
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.8174-2573A>G
c.8174-2573A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833562
chr6:51833640 T
T
 C
C
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 66 HG00741.hp1
HG01071.hp1
HG01071.hp2
others(63): Show 
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01496.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8174-2651A>G
c.8174-2651A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833640
chr6:51833688 G
G
 A
A
 1 a0001c0082t0001g0105
a0001c0082t0001g0105
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.8174-2699C>T
c.8174-2699C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833688
chr6:51833691 A
A
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8174-2702T>C
c.8174-2702T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833691
chr6:51833831 T
T
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8173+2573A>C
c.8173+2573A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833831
chr6:51833873 GC
GC
 G
G
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8173+2530delG
c.8173+2530delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833873
chr6:51833934 C
C
 T
T
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8173+2470G>A
c.8173+2470G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51833934
chr6:51834009 A
A
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8173+2395T>C
c.8173+2395T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834009
chr6:51834019 C
C
 T
T
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8173+2385G>A
c.8173+2385G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834019
chr6:51834094 C
C
 T
T
 5 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0012c0029t0002g0010
 5 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.8173+2310G>A
c.8173+2310G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834094
chr6:51834182 T
T
 C
C
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8173+2222A>G
c.8173+2222A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834182
chr6:51834230 T
T
 C
C
 22 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(19): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0043c0063t0005g0066
a0045c0084t0006g0087
 22 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(19): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8173+2174A>G
c.8173+2174A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834230
chr6:51834406 C
C
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.8173+1998G>T
c.8173+1998G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834406
chr6:51834441 C
C
 T
T
 1 a0003c0016t0001g0028
a0003c0016t0001g0028
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.8173+1963G>A
c.8173+1963G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834441
chr6:51834457 C
C
 T
T
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.8173+1947G>A
c.8173+1947G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834457
chr6:51834606 G
G
 A
A
 126 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(123): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 126 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(123): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8173+1798C>T
c.8173+1798C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834606
chr6:51834850 G
G
 T
T
 4 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(1): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 4 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(1): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.8173+1554C>A
c.8173+1554C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834850
chr6:51834955 G
G
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8173+1449C>A
c.8173+1449C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51834955
chr6:51835013 G
G
 A
A
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.8173+1391C>T
c.8173+1391C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835013
chr6:51835028 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8173+1376G>A
c.8173+1376G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835028
chr6:51835239 T
T
 C
C
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8173+1165A>G
c.8173+1165A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835239
chr6:51835512 A
A
 G
G
 4 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(1): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 4 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(1): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.8173+892T>C
c.8173+892T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835512
chr6:51835517 G
G
 T
T
 2 a0001c0083t0001g0125
a0027c0069t0018g0092
a0001c0083t0001g0125
a0027c0069t0018g0092
 2 HG02897.hp2
NA20129.hp1
HG02897.hp2
NA20129.hp1
 intron_variant MODIFIER c.8173+887C>A
c.8173+887C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835517
chr6:51835678 A
A
 G
G
 5 a0001c0094t0001g0131
a0009c0056t0001g0073
a0011c0017t0005g0071
others(2): Show 
a0001c0094t0001g0131
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 5 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(2): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.8173+726T>C
c.8173+726T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835678
chr6:51835746 C
C
 G
G
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.8173+658G>C
c.8173+658G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835746
chr6:51835760 C
C
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8173+644G>A
c.8173+644G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835760
chr6:51835820 C
C
 T
T
 7 a0001c0094t0001g0131
a0006c0076t0005g0088
a0008c0018t0020g0074
others(4): Show 
a0001c0094t0001g0131
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 7 HG02280.hp2
HG02486.hp1
HG02809.hp1
others(4): Show 
HG02280.hp2
HG02486.hp1
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.8173+584G>A
c.8173+584G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51835820
chr6:51836139 T
T
 C
C
 2 a0001c0093t0001g0127
a0005c0040t0001g0029
a0001c0093t0001g0127
a0005c0040t0001g0029
 2 HG01074.hp2
HG01433.hp1
HG01074.hp2
HG01433.hp1
 intron_variant MODIFIER c.8173+265A>G
c.8173+265A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51836139
chr6:51836260 C
C
 T
T
 49 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0027c0069t0018g0092
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0046c0067t0003g0112
 49 HG01071.hp1
HG01071.hp2
HG01074.hp1
others(46): Show 
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp1
HG01255.hp1
HG01496.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA19001.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8173+144G>A
c.8173+144G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51836260
chr6:51836292 T
T
 C
C
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8173+112A>G
c.8173+112A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51836292
chr6:51836303 T
T
 A
A
 21 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(18): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 21 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(18): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG03041.hp1
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8173+101A>T
c.8173+101A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51836303
chr6:51836367 C
C
 T
T
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8173+37G>A
c.8173+37G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 51/66 chr6 51836367
chr6:51836485 C
C
 G
G
 4 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(1): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 4 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(1): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.8108-16G>C
c.8108-16G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836485
chr6:51836533 C
C
 T
T
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-64G>A
c.8108-64G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836533
chr6:51836536 G
G
 A
A
 2 a0002c0005t0002g0021
a0004c0006t0002g0048
a0002c0005t0002g0021
a0004c0006t0002g0048
 2 HG02055.hp1
HG03486.hp2
HG02055.hp1
HG03486.hp2
 intron_variant MODIFIER c.8108-67C>T
c.8108-67C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836536
chr6:51836635 T
T
 C
C
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-166A>G
c.8108-166A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836635
chr6:51836664 T
T
 C
C
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-195A>G
c.8108-195A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836664
chr6:51836686 G
G
 A
A
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 89 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8108-217C>T
c.8108-217C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836686
chr6:51836887 C
C
 T
T
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.8108-418G>A
c.8108-418G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836887
chr6:51836906 T
T
 A
A
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.8108-437A>T
c.8108-437A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836906
chr6:51836921 C
C
 T
T
 2 a0004c0014t0004g0024
a0021c0045t0001g0036
a0004c0014t0004g0024
a0021c0045t0001g0036
 2 HG01081.hp1
HG01433.hp2
HG01081.hp1
HG01433.hp2
 intron_variant MODIFIER c.8108-452G>A
c.8108-452G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51836921
chr6:51837087 G
G
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8108-618C>A
c.8108-618C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837087
chr6:51837246 T
T
 C
C
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.8108-777A>G
c.8108-777A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837246
chr6:51837275 C
C
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8108-806G>A
c.8108-806G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837275
chr6:51837284 A
A
 G
G
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0031t0003g0014
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 73 HG00738.hp1
HG00741.hp1
HG01071.hp1
others(70): Show 
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG02040.hp1
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8108-815T>C
c.8108-815T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837284
chr6:51837349 T
T
 C
C
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.8108-880A>G
c.8108-880A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837349
chr6:51837381 T
T
 A
A
 1 a0003c0007t0001g0043
a0003c0007t0001g0043
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.8108-912A>T
c.8108-912A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837381
chr6:51837524 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8108-1055A>G
c.8108-1055A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837524
chr6:51837557 C
C
 T
T
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.8108-1088G>A
c.8108-1088G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837557
chr6:51837706 T
T
 C
C
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.8108-1237A>G
c.8108-1237A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837706
chr6:51837708 A
A
 AG
AG
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-1240_8108-123
others(5): Show 
c.8108-1240_8108-1239insC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837708
chr6:51837714 C
C
 T
T
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-1245G>A
c.8108-1245G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837714
chr6:51837767 A
A
 G
G
 7 a0001c0094t0001g0131
a0006c0076t0005g0088
a0008c0018t0020g0074
others(4): Show 
a0001c0094t0001g0131
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 7 HG02280.hp2
HG02486.hp1
HG02809.hp1
others(4): Show 
HG02280.hp2
HG02486.hp1
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.8108-1298T>C
c.8108-1298T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837767
chr6:51837855 T
T
 G
G
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8108-1386A>C
c.8108-1386A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51837855
chr6:51838001 G
G
 A
A
 33 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(30): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0036c0074t0003g0108
a0040c0081t0001g0124
 33 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(30): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02698.hp1
HG03239.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8108-1532C>T
c.8108-1532C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838001
chr6:51838020 C
C
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8108-1551G>A
c.8108-1551G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838020
chr6:51838050 T
T
 A
A
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 16 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-1581A>T
c.8108-1581A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838050
chr6:51838121 T
T
 A
A
 84 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(81): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0047c0051t0004g0056
a0048c0023t0017g0081
 84 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(81): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8108-1652A>T
c.8108-1652A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838121
chr6:51838214 T
T
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0047c0051t0004g0056
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8108-1745A>T
c.8108-1745A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838214
chr6:51838541 G
G
 A
A
 1 a0001c0032t0001g0075
a0001c0032t0001g0075
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.8108-2072C>T
c.8108-2072C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838541
chr6:51838649 G
G
 A
A
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.8108-2180C>T
c.8108-2180C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838649
chr6:51838932 T
T
 C
C
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.8108-2463A>G
c.8108-2463A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838932
chr6:51838968 A
A
 G
G
 2 a0008c0053t0016g0069
a0047c0051t0004g0056
a0008c0053t0016g0069
a0047c0051t0004g0056
 2 HG02965.hp2
HG03139.hp2
HG02965.hp2
HG03139.hp2
 intron_variant MODIFIER c.8108-2499T>C
c.8108-2499T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838968
chr6:51838989 C
C
 G
G
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8108-2520G>C
c.8108-2520G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51838989
chr6:51839188 A
A
 G
G
 7 a0002c0020t0008g0110
a0002c0065t0007g0068
a0003c0048t0001g0047
others(4): Show 
a0002c0020t0008g0110
a0002c0065t0007g0068
a0003c0048t0001g0047
a0006c0011t0005g0063
a0008c0053t0016g0069
a0009c0087t0001g0111
a0047c0051t0004g0056
 7 HG01243.hp1
HG02486.hp2
HG02809.hp2
others(4): Show 
HG01243.hp1
HG02486.hp2
HG02809.hp2
HG02965.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp1
 intron_variant MODIFIER c.8108-2719T>C
c.8108-2719T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51839188
chr6:51839216 A
A
 G
G
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 17 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-2747T>C
c.8108-2747T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51839216
chr6:51839281 C
C
 T
T
 4 a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
others(1): Show 
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 4 HG02622.hp2
HG02922.hp2
HG02976.hp1
others(1): Show 
HG02622.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.8108-2812G>A
c.8108-2812G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51839281
chr6:51839335 G
G
 A
A
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 15 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(12): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-2866C>T
c.8108-2866C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51839335
chr6:51839449 G
G
 A
A
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.8108-2980C>T
c.8108-2980C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51839449
chr6:51839870 C
C
 G
G
 23 a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
others(20): Show 
a0001c0002t0001g0083
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0046t0002g0050
a0005c0040t0001g0029
a0006c0011t0005g0134
a0017c0089t0002g0116
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 23 HG00423.hp1
HG00738.hp1
HG01074.hp2
others(20): Show 
HG00423.hp1
HG00738.hp1
HG01074.hp2
HG01243.hp2
HG01255.hp2
HG01433.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG02717.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03704.hp2
HG06807.hp2
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19005.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.8108-3401G>C
c.8108-3401G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51839870
chr6:51839969 G
G
 T
T
 14 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(11): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 14 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(11): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-3500C>A
c.8108-3500C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51839969
chr6:51840088 G
G
 A
A
 43 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(40): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0006c0011t0005g0063
a0008c0053t0016g0069
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0013c0095t0014g0122
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
a0047c0051t0004g0056
 43 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(40): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8108-3619C>T
c.8108-3619C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840088
chr6:51840144 C
C
 G
G
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.8108-3675G>C
c.8108-3675G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840144
chr6:51840246 T
T
 G
G
 1 a0034c0085t0004g0096
a0034c0085t0004g0096
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.8108-3777A>C
c.8108-3777A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840246
chr6:51840315 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.8108-3846C>T
c.8108-3846C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840315
chr6:51840444 C
C
 T
T
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 15 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(12): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-3975G>A
c.8108-3975G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840444
chr6:51840489 CCTT
CCTT
 C
C
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 15 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(12): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-4023_8108-402
others(7): Show 
c.8108-4023_8108-4021delAAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840489
chr6:51840614 T
T
 C
C
 5 a0001c0022t0001g0132
a0002c0021t0004g0130
a0003c0013t0001g0052
others(2): Show 
a0001c0022t0001g0132
a0002c0021t0004g0130
a0003c0013t0001g0052
a0034c0085t0004g0096
a0035c0086t0001g0109
 5 HG00423.hp1
HG01952.hp2
HG02015.hp2
others(2): Show 
HG00423.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
NA18971.hp2
 intron_variant MODIFIER c.8108-4145A>G
c.8108-4145A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840614
chr6:51840690 A
A
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.8108-4221T>G
c.8108-4221T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840690
chr6:51840765 C
C
 T
T
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.8108-4296G>A
c.8108-4296G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840765
chr6:51840770 T
T
 C
C
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.8108-4301A>G
c.8108-4301A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840770
chr6:51840796 G
G
 A
A
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8108-4327C>T
c.8108-4327C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840796
chr6:51840826 C
C
 T
T
 45 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(42): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0006c0011t0005g0063
a0008c0053t0016g0069
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
a0047c0051t0004g0056
 45 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(42): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8108-4357G>A
c.8108-4357G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840826
chr6:51840898 T
T
 C
C
 46 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(43): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0097
a0001c0032t0001g0075
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0006c0011t0005g0063
a0008c0053t0016g0069
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0036c0074t0003g0108
a0040c0081t0001g0124
a0047c0051t0004g0056
 46 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(43): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp1
NA18747.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8108-4429A>G
c.8108-4429A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51840898
chr6:51841026 TAAGTA
TAAGTA
 T
T
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.8108-4562_8108-455
others(9): Show 
c.8108-4562_8108-4558delTACTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51841026
chr6:51841163 A
A
 T
T
 18 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
others(15): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0005t0004g0076
a0002c0091t0007g0133
a0003c0015t0001g0041
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0010c0030t0001g0007
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0044c0075t0001g0119
 18 HG00741.hp1
HG01175.hp1
HG01261.hp1
others(15): Show 
HG00741.hp1
HG01175.hp1
HG01261.hp1
HG02040.hp1
HG02896.hp1
HG02976.hp2
HG03471.hp2
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20300.hp2
 intron_variant MODIFIER c.8108-4694T>A
c.8108-4694T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51841163
chr6:51841369 C
C
 CCCTTT
CCCTTT
 88 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(85): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0047c0051t0004g0056
a0048c0023t0017g0081
 88 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(85): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8108-4905_8108-490
others(9): Show 
c.8108-4905_8108-4901dupAAAGG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51841369
chr6:51841423 T
T
 C
C
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.8108-4954A>G
c.8108-4954A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51841423
chr6:51841553 C
C
 A
A
 2 a0006c0076t0005g0088
a0008c0018t0020g0074
a0006c0076t0005g0088
a0008c0018t0020g0074
 2 HG02486.hp1
HG03098.hp1
HG02486.hp1
HG03098.hp1
 intron_variant MODIFIER c.8108-5084G>T
c.8108-5084G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51841553
chr6:51841734 G
G
 T
T
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.8108-5265C>A
c.8108-5265C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51841734
chr6:51842361 G
G
 A
A
 1 a0002c0004t0003g0085
a0002c0004t0003g0085
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.8107+5414C>T
c.8107+5414C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51842361
chr6:51842378 C
C
 T
T
 5 a0001c0022t0001g0129
a0002c0077t0002g0102
a0003c0041t0001g0046
others(2): Show 
a0001c0022t0001g0129
a0002c0077t0002g0102
a0003c0041t0001g0046
a0005c0037t0001g0038
a0006c0078t0005g0104
 5 HG01071.hp1
HG01106.hp1
HG01255.hp2
others(2): Show 
HG01071.hp1
HG01106.hp1
HG01255.hp2
HG02451.hp2
NA20752.hp2
 intron_variant MODIFIER c.8107+5397G>A
c.8107+5397G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51842378
chr6:51842595 C
C
 T
T
 4 a0001c0009t0001g0123
a0001c0083t0001g0125
a0002c0020t0008g0110
others(1): Show 
a0001c0009t0001g0123
a0001c0083t0001g0125
a0002c0020t0008g0110
a0027c0069t0018g0092
 4 HG02717.hp2
HG02897.hp2
HG03471.hp1
others(1): Show 
HG02717.hp2
HG02897.hp2
HG03471.hp1
NA20129.hp1
 intron_variant MODIFIER c.8107+5180G>A
c.8107+5180G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51842595
chr6:51842596 G
G
 A
A
 38 a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
others(35): Show 
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0005t0002g0018
a0002c0020t0003g0084
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0049
a0003c0012t0001g0025
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0040c0081t0001g0124
a0046c0067t0003g0112
 38 HG00423.hp1
HG00738.hp2
HG01074.hp1
others(35): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.8107+5179C>T
c.8107+5179C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51842596
chr6:51842611 TCTC
TCTC
 T
T
 2 a0001c0083t0001g0125
a0027c0069t0018g0092
a0001c0083t0001g0125
a0027c0069t0018g0092
 2 HG02897.hp2
NA20129.hp1
HG02897.hp2
NA20129.hp1
 intron_variant MODIFIER c.8107+5161_8107+516
others(7): Show 
c.8107+5161_8107+5163delGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51842611
chr6:51842990 G
G
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.8107+4785C>T
c.8107+4785C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51842990
chr6:51843548 T
T
 A
A
 6 a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
others(3): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 6 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(3): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.8107+4227A>T
c.8107+4227A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51843548
chr6:51843665 G
G
 A
A
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.8107+4110C>T
c.8107+4110C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51843665
chr6:51843804 TG
TG
 T
T
 4 a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
a0006c0011t0005g0063
 4 HG02257.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02257.hp2
HG02486.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.8107+3970delC
c.8107+3970delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51843804
chr6:51843865 T
T
 A
A
 5 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(2): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.8107+3910A>T
c.8107+3910A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51843865
chr6:51844198 A
A
 G
G
 6 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 6 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(3): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.8107+3577T>C
c.8107+3577T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51844198
chr6:51844218 T
T
 C
C
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.8107+3557A>G
c.8107+3557A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51844218
chr6:51844396 T
T
 C
C
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.8107+3379A>G
c.8107+3379A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51844396
chr6:51844540 C
C
 G
G
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.8107+3235G>C
c.8107+3235G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51844540
chr6:51844606 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+3169A>G
c.8107+3169A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51844606
chr6:51844998 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.8107+2777A>G
c.8107+2777A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51844998
chr6:51845088 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+2687A>G
c.8107+2687A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845088
chr6:51845127 G
G
 A
A
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.8107+2648C>T
c.8107+2648C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845127
chr6:51845139 C
C
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.8107+2636G>C
c.8107+2636G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845139
chr6:51845327 G
G
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+2448C>G
c.8107+2448C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845327
chr6:51845612 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+2163C>T
c.8107+2163C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845612
chr6:51845630 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.8107+2145A>G
c.8107+2145A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845630
chr6:51845729 A
A
 G
G
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.8107+2046T>C
c.8107+2046T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845729
chr6:51845739 A
A
 C
C
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0032c0058t0001g0070
a0048c0023t0017g0081
 15 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(12): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.8107+2036T>G
c.8107+2036T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845739
chr6:51845781 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.8107+1994A>G
c.8107+1994A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845781
chr6:51845801 T
T
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.8107+1974A>G
c.8107+1974A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845801
chr6:51845851 C
C
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+1924G>A
c.8107+1924G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51845851
chr6:51846280 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.8107+1495C>T
c.8107+1495C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51846280
chr6:51846413 C
C
 G
G
 2 a0006c0076t0005g0088
a0008c0053t0016g0069
a0006c0076t0005g0088
a0008c0053t0016g0069
 2 HG02486.hp1
HG02965.hp2
HG02486.hp1
HG02965.hp2
 intron_variant MODIFIER c.8107+1362G>C
c.8107+1362G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51846413
chr6:51846765 C
C
 T
T
 50 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(47): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 50 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(47): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+1010G>A
c.8107+1010G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51846765
chr6:51846875 C
C
 T
T
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 73 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(70): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+900G>A
c.8107+900G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51846875
chr6:51846900 C
C
 G
G
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.8107+875G>C
c.8107+875G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51846900
chr6:51847115 A
A
 C
C
 61 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(58): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 61 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+660T>G
c.8107+660T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847115
chr6:51847184 C
C
 T
T
 61 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(58): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 61 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+591G>A
c.8107+591G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847184
chr6:51847260 A
A
 AT
AT
 12 a0001c0002t0001g0083
a0003c0007t0001g0043
a0007c0003t0001g0006
others(9): Show 
a0001c0002t0001g0083
a0003c0007t0001g0043
a0007c0003t0001g0006
a0008c0018t0020g0074
a0008c0053t0016g0069
a0018c0052t0006g0086
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0031c0057t0013g0067
a0038c0062t0002g0065
a0041c0088t0006g0114
 12 HG00741.hp1
HG01175.hp2
HG02280.hp1
others(9): Show 
HG00741.hp1
HG01175.hp2
HG02280.hp1
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG06807.hp2
NA18975.hp1
NA19003.hp1
 intron_variant MODIFIER c.8107+514dupA
c.8107+514dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847260
chr6:51847260 A
A
 ATT
ATT
 7 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(4): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0039t0001g0030
a0005c0040t0001g0029
a0009c0087t0001g0111
 7 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(4): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02818.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.8107+513_8107+514d
others(4): Show 
c.8107+513_8107+514dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847260
chr6:51847260 AT
AT
 A
A
 7 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
others(4): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0002c0077t0002g0102
a0006c0011t0005g0134
a0032c0058t0001g0070
a0047c0051t0004g0056
 7 HG01255.hp2
HG02451.hp1
HG02965.hp1
others(4): Show 
HG01255.hp2
HG02451.hp1
HG02965.hp1
HG03139.hp2
HG03453.hp1
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.8107+514delA
c.8107+514delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847260
chr6:51847434 A
A
 C
C
 1 a0003c0015t0001g0039
a0003c0015t0001g0039
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+341T>G
c.8107+341T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847434
chr6:51847470 T
T
 G
G
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.8107+305A>C
c.8107+305A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847470
chr6:51847694 A
A
 T
T
 61 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
others(58): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 61 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(58): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8107+81T>A
c.8107+81T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 50/66 chr6 51847694
chr6:51848214 G
G
 C
C
 42 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(39): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
 42 HG00423.hp2
HG00738.hp1
HG01071.hp1
others(39): Show 
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7912-244C>G
c.7912-244C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848214
chr6:51848275 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.7912-305A>G
c.7912-305A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848275
chr6:51848279 A
A
 T
T
 6 a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
others(3): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 6 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(3): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.7912-309T>A
c.7912-309T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848279
chr6:51848604 G
G
 A
A
 10 a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
others(7): Show 
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
 10 HG00738.hp1
HG01071.hp2
HG01106.hp1
others(7): Show 
HG00738.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG03704.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7912-634C>T
c.7912-634C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848604
chr6:51848669 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7912-699C>T
c.7912-699C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848669
chr6:51848898 T
T
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7912-928A>T
c.7912-928A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848898
chr6:51848917 A
A
 T
T
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.7912-947T>A
c.7912-947T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848917
chr6:51848918 G
G
 A
A
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.7912-948C>T
c.7912-948C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848918
chr6:51848918 GT
GT
 G
G
 127 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(124): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 127 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(124): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7912-949delA
c.7912-949delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848918
chr6:51848919 T
T
 G
G
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.7912-949A>C
c.7912-949A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848919
chr6:51848939 GA
GA
 G
G
 78 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(75): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 78 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(75): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7912-970delT
c.7912-970delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848939
chr6:51848971 C
C
 T
T
 14 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(11): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0044c0075t0001g0119
 14 HG00423.hp2
HG01071.hp1
HG02698.hp1
others(11): Show 
HG00423.hp2
HG01071.hp1
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7912-1001G>A
c.7912-1001G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51848971
chr6:51849612 T
T
 C
C
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.7912-1642A>G
c.7912-1642A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51849612
chr6:51849724 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7912-1754T>C
c.7912-1754T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51849724
chr6:51850111 T
T
 C
C
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.7912-2141A>G
c.7912-2141A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850111
chr6:51850371 T
T
 C
C
 2 a0018c0052t0006g0086
a0025c0072t0001g0095
a0018c0052t0006g0086
a0025c0072t0001g0095
 2 HG03139.hp1
HG06807.hp2
HG03139.hp1
HG06807.hp2
 intron_variant MODIFIER c.7912-2401A>G
c.7912-2401A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850371
chr6:51850504 A
A
 G
G
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7912-2534T>C
c.7912-2534T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850504
chr6:51850536 C
C
 T
T
 74 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(71): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0048c0023t0017g0081
 74 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(71): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7912-2566G>A
c.7912-2566G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850536
chr6:51850560 T
T
 C
C
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.7912-2590A>G
c.7912-2590A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850560
chr6:51850623 G
G
 C
C
 3 a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp2
HG03041.hp2
HG02280.hp1
HG02818.hp2
HG03041.hp2
 intron_variant MODIFIER c.7912-2653C>G
c.7912-2653C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850623
chr6:51850782 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.7912-2812G>A
c.7912-2812G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850782
chr6:51850793 T
T
 C
C
 5 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(2): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.7912-2823A>G
c.7912-2823A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850793
chr6:51850911 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7912-2941C>T
c.7912-2941C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51850911
chr6:51851016 G
G
 A
A
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.7912-3046C>T
c.7912-3046C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851016
chr6:51851029 G
G
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7912-3059C>G
c.7912-3059C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851029
chr6:51851098 A
A
 G
G
 5 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(2): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.7912-3128T>C
c.7912-3128T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851098
chr6:51851334 T
T
 C
C
 26 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(23): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0022c0042t0002g0051
a0030c0055t0002g0072
a0047c0051t0004g0056
 26 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(23): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7912-3364A>G
c.7912-3364A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851334
chr6:51851365 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7912-3395G>A
c.7912-3395G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851365
chr6:51851531 C
C
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7912-3561G>T
c.7912-3561G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851531
chr6:51851818 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7912-3848G>A
c.7912-3848G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851818
chr6:51851820 GTCTA
GTCTA
 G
G
 2 a0020c0050t0001g0023
a0046c0067t0003g0112
a0020c0050t0001g0023
a0046c0067t0003g0112
 2 HG01074.hp1
HG02683.hp2
HG01074.hp1
HG02683.hp2
 intron_variant MODIFIER c.7912-3854_7912-385
others(8): Show 
c.7912-3854_7912-3851delTAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851820
chr6:51851851 C
C
 A
A
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.7912-3881G>T
c.7912-3881G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851851
chr6:51851917 C
C
 T
T
 75 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(72): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0046c0067t0003g0112
a0048c0023t0017g0081
 75 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(72): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7912-3947G>A
c.7912-3947G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51851917
chr6:51852106 C
C
 G
G
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.7911+3787G>C
c.7911+3787G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852106
chr6:51852231 T
T
 C
C
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.7911+3662A>G
c.7911+3662A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852231
chr6:51852249 T
T
 C
C
 11 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(8): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0044c0075t0001g0119
 11 HG00423.hp2
HG01071.hp1
HG02698.hp1
others(8): Show 
HG00423.hp2
HG01071.hp1
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.7911+3644A>G
c.7911+3644A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852249
chr6:51852280 T
T
 C
C
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7911+3613A>G
c.7911+3613A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852280
chr6:51852527 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7911+3366A>G
c.7911+3366A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852527
chr6:51852579 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+3314C>T
c.7911+3314C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852579
chr6:51852619 G
G
 A
A
 2 a0001c0009t0001g0103
a0006c0078t0005g0104
a0001c0009t0001g0103
a0006c0078t0005g0104
 2 HG02451.hp2
HG02622.hp2
HG02451.hp2
HG02622.hp2
 intron_variant MODIFIER c.7911+3274C>T
c.7911+3274C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852619
chr6:51852656 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+3237C>T
c.7911+3237C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852656
chr6:51852718 G
G
 C
C
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.7911+3175C>G
c.7911+3175C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852718
chr6:51852728 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+3165G>A
c.7911+3165G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852728
chr6:51852732 G
G
 GT
GT
 5 a0001c0061t0001g0064
a0024c0068t0001g0091
a0026c0073t0005g0094
others(2): Show 
a0001c0061t0001g0064
a0024c0068t0001g0091
a0026c0073t0005g0094
a0032c0058t0001g0070
a0048c0023t0017g0081
 5 HG02622.hp1
HG02717.hp1
HG03225.hp2
others(2): Show 
HG02622.hp1
HG02717.hp1
HG03225.hp2
HG03453.hp1
HG03516.hp1
 intron_variant MODIFIER c.7911+3160dupA
c.7911+3160dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852732
chr6:51852732 GT
GT
 G
G
 32 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0009t0001g0103
others(29): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0005c0039t0001g0030
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0022c0042t0002g0051
a0030c0055t0002g0072
a0047c0051t0004g0056
 32 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(29): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
NA19240.hp2
 intron_variant MODIFIER c.7911+3160delA
c.7911+3160delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852732
chr6:51852761 G
G
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+3132C>G
c.7911+3132C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852761
chr6:51852848 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7911+3045G>A
c.7911+3045G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852848
chr6:51852952 T
T
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7911+2941A>G
c.7911+2941A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51852952
chr6:51853027 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7911+2866A>G
c.7911+2866A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853027
chr6:51853094 C
C
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7911+2799G>T
c.7911+2799G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853094
chr6:51853132 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+2761A>G
c.7911+2761A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853132
chr6:51853198 T
T
 C
C
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.7911+2695A>G
c.7911+2695A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853198
chr6:51853234 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+2659A>G
c.7911+2659A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853234
chr6:51853369 CTGATAAT
others(4): Show 
CTGATAATTATA
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7911+2513_7911+252
others(15): Show 
c.7911+2513_7911+2523delTATAATTATCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853369
chr6:51853478 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+2415C>T
c.7911+2415C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853478
chr6:51853523 G
G
 C
C
 2 a0018c0052t0006g0086
a0025c0072t0001g0095
a0018c0052t0006g0086
a0025c0072t0001g0095
 2 HG03139.hp1
HG06807.hp2
HG03139.hp1
HG06807.hp2
 intron_variant MODIFIER c.7911+2370C>G
c.7911+2370C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853523
chr6:51853539 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7911+2354G>A
c.7911+2354G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853539
chr6:51853707 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7911+2186G>A
c.7911+2186G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853707
chr6:51853880 G
G
 A
A
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 73 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(70): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+2013C>T
c.7911+2013C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51853880
chr6:51854059 C
C
 G
G
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+1834G>C
c.7911+1834G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854059
chr6:51854276 A
A
 T
T
 123 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(120): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 123 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(120): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+1617T>A
c.7911+1617T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854276
chr6:51854408 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+1485A>G
c.7911+1485A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854408
chr6:51854497 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+1396G>A
c.7911+1396G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854497
chr6:51854611 G
G
 T
T
 74 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(71): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0048c0023t0017g0081
 74 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(71): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+1282C>A
c.7911+1282C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854611
chr6:51854652 C
C
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7911+1241G>A
c.7911+1241G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854652
chr6:51854767 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+1126G>A
c.7911+1126G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854767
chr6:51854796 A
A
 ACGCAGC
ACGCAGC
 6 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 6 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(3): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7911+1091_7911+109
others(10): Show 
c.7911+1091_7911+1096dupGCTGCG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854796
chr6:51854953 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+940C>T
c.7911+940C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51854953
chr6:51855028 T
T
 G
G
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+865A>C
c.7911+865A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51855028
chr6:51855253 G
G
 C
C
 2 a0038c0062t0002g0065
a0041c0088t0006g0114
a0038c0062t0002g0065
a0041c0088t0006g0114
 2 HG02280.hp1
HG03041.hp2
HG02280.hp1
HG03041.hp2
 intron_variant MODIFIER c.7911+640C>G
c.7911+640C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51855253
chr6:51855264 C
C
 A
A
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.7911+629G>T
c.7911+629G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51855264
chr6:51855300 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7911+593A>G
c.7911+593A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51855300
chr6:51855410 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+483G>A
c.7911+483G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51855410
chr6:51855557 G
G
 A
A
 118 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(115): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 118 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7911+336C>T
c.7911+336C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 49/66 chr6 51855557
chr6:51856074 A
A
 G
G
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.7734-4T>C
c.7734-4T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856074
chr6:51856233 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.7734-163A>G
c.7734-163A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856233
chr6:51856280 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7734-210T>C
c.7734-210T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856280
chr6:51856497 T
T
 A
A
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.7734-427A>T
c.7734-427A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856497
chr6:51856509 T
T
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.7734-439A>C
c.7734-439A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856509
chr6:51856709 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-639A>G
c.7734-639A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856709
chr6:51856832 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-762G>A
c.7734-762G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856832
chr6:51856955 C
C
 G
G
 5 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(2): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.7734-885G>C
c.7734-885G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856955
chr6:51856978 G
G
 A
A
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.7734-908C>T
c.7734-908C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51856978
chr6:51857037 T
T
 C
C
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.7734-967A>G
c.7734-967A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857037
chr6:51857088 C
C
 G
G
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.7734-1018G>C
c.7734-1018G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857088
chr6:51857211 CA
CA
 C
C
 45 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(42): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0054t0001g0082
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0030c0055t0002g0072
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 45 HG00423.hp2
HG00738.hp1
HG01071.hp1
others(42): Show 
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7734-1142delT
c.7734-1142delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857211
chr6:51857218 A
A
 AC
AC
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0032c0058t0001g0070
a0048c0023t0017g0081
 15 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(12): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03516.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7734-1149_7734-114
others(5): Show 
c.7734-1149_7734-1148insG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857218
chr6:51857241 A
A
 T
T
 1 a0002c0004t0003g0085
a0002c0004t0003g0085
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.7734-1171T>A
c.7734-1171T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857241
chr6:51857433 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7734-1363A>G
c.7734-1363A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857433
chr6:51857895 A
A
 G
G
 26 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(23): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0022c0042t0002g0051
a0030c0055t0002g0072
a0047c0051t0004g0056
 26 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(23): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7734-1825T>C
c.7734-1825T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857895
chr6:51857901 G
G
 T
T
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.7734-1831C>A
c.7734-1831C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857901
chr6:51857998 T
T
 C
C
 11 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(8): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0032c0058t0001g0070
a0048c0023t0017g0081
 11 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(8): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp1
HG03516.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7734-1928A>G
c.7734-1928A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51857998
chr6:51858217 G
G
 A
A
 67 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(64): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 67 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(64): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-2147C>T
c.7734-2147C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858217
chr6:51858308 G
G
 A
A
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.7734-2238C>T
c.7734-2238C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858308
chr6:51858349 C
C
 T
T
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.7734-2279G>A
c.7734-2279G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858349
chr6:51858430 C
C
 T
T
 67 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(64): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 67 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(64): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-2360G>A
c.7734-2360G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858430
chr6:51858495 A
A
 G
G
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.7734-2425T>C
c.7734-2425T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858495
chr6:51858536 G
G
 A
A
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.7734-2466C>T
c.7734-2466C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858536
chr6:51858648 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-2578G>A
c.7734-2578G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858648
chr6:51858768 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-2698C>T
c.7734-2698C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858768
chr6:51858903 T
T
 G
G
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-2833A>C
c.7734-2833A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51858903
chr6:51859052 A
A
 C
C
 42 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(39): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
 42 HG00423.hp2
HG00738.hp1
HG01071.hp1
others(39): Show 
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7734-2982T>G
c.7734-2982T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859052
chr6:51859249 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-3179C>T
c.7734-3179C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859249
chr6:51859290 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-3220C>T
c.7734-3220C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859290
chr6:51859328 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7734-3258G>A
c.7734-3258G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859328
chr6:51859334 G
G
 A
A
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0032c0058t0001g0070
a0048c0023t0017g0081
 12 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(9): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03453.hp1
HG03516.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.7734-3264C>T
c.7734-3264C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859334
chr6:51859384 G
G
 A
A
 6 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 6 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(3): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7734-3314C>T
c.7734-3314C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859384
chr6:51859386 C
C
 T
T
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.7734-3316G>A
c.7734-3316G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859386
chr6:51859419 G
G
 A
A
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.7734-3349C>T
c.7734-3349C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859419
chr6:51859423 G
G
 A
A
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.7734-3353C>T
c.7734-3353C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859423
chr6:51859443 G
G
 A
A
 2 a0012c0027t0002g0005
a0023c0044t0001g0044
a0012c0027t0002g0005
a0023c0044t0001g0044
 2 HG01952.hp1
NA18988.hp2
HG01952.hp1
NA18988.hp2
 intron_variant MODIFIER c.7734-3373C>T
c.7734-3373C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859443
chr6:51859525 C
C
 CA
CA
 34 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(31): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0078
a0001c0019t0001g0097
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0007c0003t0001g0012
a0009c0054t0001g0082
a0009c0056t0001g0073
a0016c0090t0001g0120
a0018c0052t0006g0086
a0020c0050t0001g0023
a0022c0042t0002g0051
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
a0046c0067t0003g0112
a0047c0051t0004g0056
 34 HG00738.hp1
HG00741.hp1
HG01071.hp2
others(31): Show 
HG00738.hp1
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02976.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
NA18975.hp2
NA19005.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.7734-3456dupT
c.7734-3456dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859525
chr6:51859525 C
C
 CAAAA
CAAAA
 11 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(8): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0039t0001g0030
a0009c0087t0001g0111
a0032c0058t0001g0070
a0048c0023t0017g0081
 11 HG01243.hp1
HG01433.hp1
HG02257.hp1
others(8): Show 
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02451.hp1
HG02622.hp1
HG02818.hp2
HG02965.hp1
HG03453.hp1
HG03516.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7734-3459_7734-345
others(8): Show 
c.7734-3459_7734-3456dupTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859525
chr6:51859525 C
C
 CAAAAAA
CAAAAAA
 46 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
others(43): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0023c0044t0001g0044
a0024c0068t0001g0091
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
 46 HG00738.hp2
HG01081.hp1
HG01106.hp2
others(43): Show 
HG00738.hp2
HG01081.hp1
HG01106.hp2
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02257.hp2
HG02486.hp2
HG02683.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-3461_7734-345
others(10): Show 
c.7734-3461_7734-3456dupTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859525
chr6:51859525 C
C
 CAAAAAAA
CAAAAAAA
 11 a0001c0083t0001g0125
a0002c0005t0002g0018
a0002c0080t0002g0121
others(8): Show 
a0001c0083t0001g0125
a0002c0005t0002g0018
a0002c0080t0002g0121
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0004c0008t0004g0045
a0012c0027t0002g0005
a0021c0045t0001g0036
a0034c0085t0004g0096
a0041c0088t0006g0114
 11 HG00423.hp1
HG00741.hp2
HG01175.hp2
others(8): Show 
HG00423.hp1
HG00741.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG02055.hp2
HG02280.hp1
NA18988.hp2
NA19001.hp1
NA19001.hp2
NA20129.hp1
 intron_variant MODIFIER c.7734-3462_7734-345
others(11): Show 
c.7734-3462_7734-3456dupTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859525
chr6:51859642 A
A
 G
G
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-3572T>C
c.7734-3572T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859642
chr6:51859955 T
T
 C
C
 5 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(2): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.7734-3885A>G
c.7734-3885A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51859955
chr6:51860131 A
A
 G
G
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7734-4061T>C
c.7734-4061T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860131
chr6:51860169 A
A
 C
C
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.7734-4099T>G
c.7734-4099T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860169
chr6:51860186 G
G
 A
A
 6 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 6 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(3): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7734-4116C>T
c.7734-4116C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860186
chr6:51860276 A
A
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7734-4206T>C
c.7734-4206T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860276
chr6:51860357 G
G
 A
A
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.7734-4287C>T
c.7734-4287C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860357
chr6:51860434 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7734-4364G>A
c.7734-4364G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860434
chr6:51860549 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7734-4479C>T
c.7734-4479C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860549
chr6:51860665 A
A
 G
G
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7734-4595T>C
c.7734-4595T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860665
chr6:51860712 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7734-4642A>G
c.7734-4642A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860712
chr6:51860859 T
T
 C
C
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.7734-4789A>G
c.7734-4789A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860859
chr6:51860864 C
C
 T
T
 55 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(52): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 55 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(52): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-4794G>A
c.7734-4794G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860864
chr6:51860865 A
A
 G
G
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-4795T>C
c.7734-4795T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51860865
chr6:51861003 G
G
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7734-4933C>T
c.7734-4933C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51861003
chr6:51861389 A
A
 T
T
 123 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(120): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 123 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(120): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7734-5319T>A
c.7734-5319T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51861389
chr6:51861799 GCAA
GCAA
 G
G
 2 a0004c0006t0002g0055
a0030c0055t0002g0072
a0004c0006t0002g0055
a0030c0055t0002g0072
 2 HG02818.hp1
HG03516.hp2
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.7734-5732_7734-573
others(7): Show 
c.7734-5732_7734-5730delTTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51861799
chr6:51862087 A
A
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+5776T>A
c.7733+5776T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862087
chr6:51862112 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7733+5751A>G
c.7733+5751A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862112
chr6:51862179 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+5684G>A
c.7733+5684G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862179
chr6:51862376 T
T
 C
C
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.7733+5487A>G
c.7733+5487A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862376
chr6:51862551 A
A
 G
G
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7733+5312T>C
c.7733+5312T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862551
chr6:51862638 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+5225G>A
c.7733+5225G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862638
chr6:51862653 C
C
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+5210G>A
c.7733+5210G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862653
chr6:51862820 G
G
 C
C
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+5043C>G
c.7733+5043C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51862820
chr6:51863143 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+4720C>T
c.7733+4720C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863143
chr6:51863251 G
G
 GTA
GTA
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+4610_7733+461
others(6): Show 
c.7733+4610_7733+4611dupTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863251
chr6:51863279 G
G
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7733+4584C>T
c.7733+4584C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863279
chr6:51863416 C
C
 T
T
 55 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(52): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 55 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(52): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02698.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+4447G>A
c.7733+4447G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863416
chr6:51863432 T
T
 G
G
 1 a0009c0056t0001g0073
a0009c0056t0001g0073
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.7733+4431A>C
c.7733+4431A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863432
chr6:51863486 G
G
 T
T
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.7733+4377C>A
c.7733+4377C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863486
chr6:51863492 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+4371G>A
c.7733+4371G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863492
chr6:51863673 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7733+4190A>G
c.7733+4190A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863673
chr6:51863851 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7733+4012A>G
c.7733+4012A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863851
chr6:51863974 C
C
 T
T
 9 a0001c0019t0001g0118
a0003c0012t0001g0025
a0003c0012t0001g0032
others(6): Show 
a0001c0019t0001g0118
a0003c0012t0001g0025
a0003c0012t0001g0032
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0044c0075t0001g0119
 9 HG00423.hp2
HG02698.hp1
HG04204.hp1
others(6): Show 
HG00423.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7733+3889G>A
c.7733+3889G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51863974
chr6:51864200 T
T
 C
C
 118 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(115): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 118 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+3663A>G
c.7733+3663A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51864200
chr6:51864229 C
C
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.7733+3634G>C
c.7733+3634G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51864229
chr6:51864310 C
C
 T
T
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+3553G>A
c.7733+3553G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51864310
chr6:51864311 G
G
 A
A
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7733+3552C>T
c.7733+3552C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51864311
chr6:51864616 G
G
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7733+3247C>G
c.7733+3247C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51864616
chr6:51864617 G
G
 A
A
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.7733+3246C>T
c.7733+3246C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51864617
chr6:51865459 C
C
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7733+2404G>T
c.7733+2404G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51865459
chr6:51865754 G
G
 C
C
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.7733+2109C>G
c.7733+2109C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51865754
chr6:51865782 T
T
 C
C
 11 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(8): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0044c0075t0001g0119
 11 HG00423.hp2
HG01071.hp1
HG02698.hp1
others(8): Show 
HG00423.hp2
HG01071.hp1
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.7733+2081A>G
c.7733+2081A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51865782
chr6:51866030 T
T
 TA
TA
 114 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(111): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 114 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(111): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+1832dupT
c.7733+1832dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866030
chr6:51866036 A
A
 AC
AC
 4 a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
a0006c0011t0005g0063
 4 HG02257.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02257.hp2
HG02486.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.7733+1826_7733+182
others(5): Show 
c.7733+1826_7733+1827insG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866036
chr6:51866039 T
T
 C
C
 53 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(50): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 53 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(50): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+1824A>G
c.7733+1824A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866039
chr6:51866207 AT
AT
 A
A
 2 a0018c0052t0006g0086
a0025c0072t0001g0095
a0018c0052t0006g0086
a0025c0072t0001g0095
 2 HG03139.hp1
HG06807.hp2
HG03139.hp1
HG06807.hp2
 intron_variant MODIFIER c.7733+1655delA
c.7733+1655delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866207
chr6:51866502 C
C
 G
G
 2 a0018c0052t0006g0086
a0025c0072t0001g0095
a0018c0052t0006g0086
a0025c0072t0001g0095
 2 HG03139.hp1
HG06807.hp2
HG03139.hp1
HG06807.hp2
 intron_variant MODIFIER c.7733+1361G>C
c.7733+1361G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866502
chr6:51866506 T
T
 C
C
 112 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(109): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 112 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(109): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+1357A>G
c.7733+1357A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866506
chr6:51866704 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+1159C>T
c.7733+1159C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866704
chr6:51866818 C
C
 A
A
 1 a0004c0006t0002g0055
a0004c0006t0002g0055
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.7733+1045G>T
c.7733+1045G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866818
chr6:51866863 A
A
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+1000T>A
c.7733+1000T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866863
chr6:51866905 C
C
 T
T
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 73 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(70): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+958G>A
c.7733+958G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866905
chr6:51866975 C
C
 T
T
 118 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(115): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0030c0055t0002g0072
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 118 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+888G>A
c.7733+888G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51866975
chr6:51867458 T
T
 C
C
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 73 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(70): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+405A>G
c.7733+405A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51867458
chr6:51867468 T
T
 C
C
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.7733+395A>G
c.7733+395A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51867468
chr6:51867490 G
G
 A
A
 2 a0004c0006t0002g0055
a0030c0055t0002g0072
a0004c0006t0002g0055
a0030c0055t0002g0072
 2 HG02818.hp1
HG03516.hp2
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.7733+373C>T
c.7733+373C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51867490
chr6:51867516 T
T
 C
C
 4 a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
a0006c0011t0005g0063
 4 HG02257.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02257.hp2
HG02486.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.7733+347A>G
c.7733+347A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51867516
chr6:51867800 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+63C>T
c.7733+63C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51867800
chr6:51867830 G
G
 A
A
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7733+33C>T
c.7733+33C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 48/66 chr6 51867830
chr6:51868318 T
T
 C
C
 4 a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
a0006c0011t0005g0063
 4 HG02257.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02257.hp2
HG02486.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.7487-209A>G
c.7487-209A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51868318
chr6:51868499 G
G
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.7487-390C>A
c.7487-390C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51868499
chr6:51868781 T
T
 A
A
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.7487-672A>T
c.7487-672A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51868781
chr6:51868918 T
T
 G
G
 4 a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0003c0048t0001g0047
a0006c0011t0005g0063
 4 HG02257.hp2
HG02486.hp2
HG02809.hp2
others(1): Show 
HG02257.hp2
HG02486.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.7487-809A>C
c.7487-809A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51868918
chr6:51869026 T
T
 G
G
 57 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
others(54): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 57 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(54): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp2
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7487-917A>C
c.7487-917A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869026
chr6:51869099 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7487-990C>T
c.7487-990C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869099
chr6:51869209 A
A
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7487-1100T>G
c.7487-1100T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869209
chr6:51869365 C
C
 T
T
 53 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(50): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 53 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(50): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7486+1139G>A
c.7486+1139G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869365
chr6:51869415 T
T
 A
A
 2 a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0019t0001g0097
a0001c0022t0001g0132
 2 NA18971.hp2
NA19005.hp2
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7486+1089A>T
c.7486+1089A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869415
chr6:51869501 G
G
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.7486+1003C>A
c.7486+1003C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869501
chr6:51869609 A
A
 G
G
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7486+895T>C
c.7486+895T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869609
chr6:51869785 G
G
 GA
GA
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7486+718dupT
c.7486+718dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869785
chr6:51869853 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7486+651C>T
c.7486+651C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51869853
chr6:51870463 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7486+41C>A
c.7486+41C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 47/66 chr6 51870463
chr6:51870728 T
T
 C
C
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.7351-89A>G
c.7351-89A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51870728
chr6:51870815 T
T
 C
C
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-176A>G
c.7351-176A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51870815
chr6:51870988 T
T
 G
G
 2 a0020c0050t0001g0023
a0046c0067t0003g0112
a0020c0050t0001g0023
a0046c0067t0003g0112
 2 HG01074.hp1
HG02683.hp2
HG01074.hp1
HG02683.hp2
 intron_variant MODIFIER c.7351-349A>C
c.7351-349A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51870988
chr6:51871029 A
A
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7351-390T>A
c.7351-390T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871029
chr6:51871055 T
T
 A
A
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-416A>T
c.7351-416A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871055
chr6:51871111 C
C
 G
G
 5 a0002c0080t0002g0121
a0004c0008t0004g0045
a0010c0026t0001g0013
others(2): Show 
a0002c0080t0002g0121
a0004c0008t0004g0045
a0010c0026t0001g0013
a0012c0027t0002g0005
a0023c0044t0001g0044
 5 HG01952.hp1
NA18988.hp2
NA19001.hp1
others(2): Show 
HG01952.hp1
NA18988.hp2
NA19001.hp1
NA19001.hp2
NA19007.hp1
 intron_variant MODIFIER c.7351-472G>C
c.7351-472G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871111
chr6:51871112 T
T
 C
C
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.7351-473A>G
c.7351-473A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871112
chr6:51871182 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.7351-543G>A
c.7351-543G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871182
chr6:51871311 ATTACATC
others(688): Show 
ATTACATCTATCTAATGGAATACTATTCGTCGATAATAAGGAATGTAATA
TTGATATGTGCAACAAGTTAGATGAATCCCAATGGCATTCAGGAGTGAAG
GAAGCCAGTCCCAAAAGGTTACATACTATATGACTCCATTTATATGACTG
TTGAAAAGGCAAAACTATAGTGACAGAGAATATATTAGTGATTGCCAGTG
GTTTAAAGCAAGAGGAGGCTGTGGCTACAAAGATGGAGCAAGGAACTGGG
GTGGATGCAACTGTTCTGTGTCTTGATTGTCGTGGTGGTTGTTACACAAA
TGTGTACATGTGTTAAAGCTCATAGAACTGTACATCAAAAAGTCAGTTTT
GCTGTATATTAATATATTTTAAAAACTTTAACAAAAAGTCTGAAAAGAAA
GAAACAATAAGTGTTTTCATGATTTTCCACAAAATCTCTTTGACAAACAC
TATCCAATCAAGCTGCTAGTGCCTCACTGTTCCATTGTTAAAAATAGTCT
TACATTTGAGGATTACCAGAATTTTTGCAATCACTCCCAACATGAAAAAT
GATGAAACAATAAACAAATAGCAGAAAAGAAACTCAGTGGACACAAAGCT
AGTCTAGAAATCAGAAGAAAACAAAAACTATAATTAATGGCCTTGGAGAA
ATAAGTATATTATATCCATGAAACAAATAGAAGCCTAAAATATTAT
 A
A
 28 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(25): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0046c0067t0003g0112
a0047c0051t0004g0056
 28 HG00738.hp1
HG01071.hp2
HG01074.hp1
others(25): Show 
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7351-1367_7351-673
others(3): Show 
c.7351-1367_7351-673del
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871311
chr6:51871332 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7351-693T>C
c.7351-693T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871332
chr6:51871377 G
G
 C
C
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-738C>G
c.7351-738C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871377
chr6:51871421 C
C
 T
T
 74 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(71): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0045c0084t0006g0087
a0048c0023t0017g0081
 74 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(71): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-782G>A
c.7351-782G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871421
chr6:51871433 A
A
 C
C
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.7351-794T>G
c.7351-794T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871433
chr6:51871477 A
A
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-838T>C
c.7351-838T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871477
chr6:51871768 T
T
 C
C
 2 a0018c0052t0006g0086
a0025c0072t0001g0095
a0018c0052t0006g0086
a0025c0072t0001g0095
 2 HG03139.hp1
HG06807.hp2
HG03139.hp1
HG06807.hp2
 intron_variant MODIFIER c.7351-1129A>G
c.7351-1129A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871768
chr6:51871958 G
G
 A
A
 4 a0002c0005t0002g0018
a0004c0008t0003g0003
a0004c0014t0004g0024
others(1): Show 
a0002c0005t0002g0018
a0004c0008t0003g0003
a0004c0014t0004g0024
a0021c0045t0001g0036
 4 HG01081.hp1
HG01433.hp2
HG01496.hp2
others(1): Show 
HG01081.hp1
HG01433.hp2
HG01496.hp2
HG02055.hp2
 intron_variant MODIFIER c.7351-1319C>T
c.7351-1319C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51871958
chr6:51872012 GA
GA
 G
G
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-1374delT
c.7351-1374delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872012
chr6:51872210 T
T
 A
A
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-1571A>T
c.7351-1571A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872210
chr6:51872212 CTG
CTG
 C
C
 17 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(14): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 17 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(14): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.7351-1575_7351-157
others(6): Show 
c.7351-1575_7351-1574delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872212
chr6:51872322 A
A
 C
C
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.7351-1683T>G
c.7351-1683T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872322
chr6:51872379 G
G
 A
A
 53 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(50): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 53 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(50): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-1740C>T
c.7351-1740C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872379
chr6:51872415 G
G
 GT
GT
 42 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(39): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
 42 HG00423.hp2
HG00738.hp1
HG00741.hp1
others(39): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.7351-1777dupA
c.7351-1777dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872415
chr6:51872415 GT
GT
 G
G
 56 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(53): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 56 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(53): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-1777delA
c.7351-1777delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872415
chr6:51872416 T
T
 G
G
 6 a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
others(3): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 6 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(3): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.7351-1777A>C
c.7351-1777A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872416
chr6:51872460 G
G
 T
T
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.7351-1821C>A
c.7351-1821C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872460
chr6:51872462 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.7351-1823C>T
c.7351-1823C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872462
chr6:51872522 C
C
 G
G
 8 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 8 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(5): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7351-1883G>C
c.7351-1883G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872522
chr6:51872602 T
T
 C
C
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.7351-1963A>G
c.7351-1963A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872602
chr6:51872861 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.7351-2222G>A
c.7351-2222G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872861
chr6:51872875 C
C
 CTCTTTTT
others(10): Show 
CTCTTTTTTTTTTTTTTT
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7351-2237_7351-223
others(21): Show 
c.7351-2237_7351-2236insAAAAAAAAAAAAAAAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872875
chr6:51872875 CT
CT
 C
C
 17 a0001c0010t0001g0078
a0001c0094t0001g0131
a0002c0091t0007g0133
others(14): Show 
a0001c0010t0001g0078
a0001c0094t0001g0131
a0002c0091t0007g0133
a0003c0013t0001g0054
a0004c0006t0002g0048
a0007c0003t0001g0006
a0008c0018t0020g0074
a0011c0017t0005g0080
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0043c0063t0005g0066
a0046c0067t0003g0112
 17 HG00741.hp1
HG01074.hp1
HG01175.hp1
others(14): Show 
HG00741.hp1
HG01074.hp1
HG01175.hp1
HG02055.hp1
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
NA19003.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.7351-2237delA
c.7351-2237delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872875
chr6:51872875 CTT
CTT
 C
C
 23 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(20): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0003c0013t0001g0052
a0003c0016t0001g0028
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0054t0001g0082
a0022c0042t0002g0051
a0025c0072t0001g0095
a0030c0055t0002g0072
a0047c0051t0004g0056
 23 HG00738.hp1
HG01071.hp2
HG01106.hp1
others(20): Show 
HG00738.hp1
HG01071.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02717.hp2
HG02818.hp1
HG02976.hp1
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7351-2238_7351-223
others(6): Show 
c.7351-2238_7351-2237delAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872875
chr6:51872899 T
T
 C
C
 2 a0001c0032t0001g0075
a0010c0030t0001g0007
a0001c0032t0001g0075
a0010c0030t0001g0007
 2 HG04184.hp1
HG04184.hp2
HG04184.hp1
HG04184.hp2
 intron_variant MODIFIER c.7351-2260A>G
c.7351-2260A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872899
chr6:51872899 T
T
 TC
TC
 3 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0061t0001g0064
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0061t0001g0064
 3 HG03453.hp1
NA18988.hp1
NA19054.hp2
HG03453.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7351-2261dupG
c.7351-2261dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872899
chr6:51872899 T
T
 TTC
TTC
 60 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
others(57): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0048c0023t0017g0081
 60 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(57): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-2261_7351-226
others(6): Show 
c.7351-2261_7351-2260insGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51872899
chr6:51873130 G
G
 C
C
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.7351-2491C>G
c.7351-2491C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873130
chr6:51873189 G
G
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-2550C>A
c.7351-2550C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873189
chr6:51873206 TG
TG
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-2568delC
c.7351-2568delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873206
chr6:51873262 G
G
 C
C
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.7351-2623C>G
c.7351-2623C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873262
chr6:51873375 G
G
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.7351-2736C>T
c.7351-2736C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873375
chr6:51873554 C
C
 T
T
 42 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(39): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0030c0055t0002g0072
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
 42 HG00423.hp2
HG00738.hp1
HG01071.hp1
others(39): Show 
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7351-2915G>A
c.7351-2915G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873554
chr6:51873559 A
A
 G
G
 130 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(127): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 130 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(127): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-2920T>C
c.7351-2920T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873559
chr6:51873622 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-2983C>T
c.7351-2983C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873622
chr6:51873904 T
T
 C
C
 1 a0030c0055t0002g0072
a0030c0055t0002g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.7351-3265A>G
c.7351-3265A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873904
chr6:51873962 G
G
 A
A
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.7351-3323C>T
c.7351-3323C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51873962
chr6:51874113 C
C
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7351-3474G>C
c.7351-3474G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874113
chr6:51874184 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-3545C>T
c.7351-3545C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874184
chr6:51874281 AT
AT
 A
A
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-3643delA
c.7351-3643delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874281
chr6:51874415 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.7351-3776C>T
c.7351-3776C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874415
chr6:51874666 C
C
 T
T
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.7351-4027G>A
c.7351-4027G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874666
chr6:51874678 C
C
 A
A
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7351-4039G>T
c.7351-4039G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874678
chr6:51874730 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7351-4091G>A
c.7351-4091G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874730
chr6:51874764 TAAAAACA
others(6031): Show 
TAAAAACACAAAAAATGAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACG
CAGAAGACGGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTC
ACTAGGGAGTGCCAGACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTG
CGCGAGCCGAAGCAGGGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGG
TCAGGGAGTTCCCTTTCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGG
AAAATCGGGTCACTCCCACCCAAATATTGCGCTTTTCAGACCGGCTTAAG
AAACGGCGCACCACGAGACTATATCCCACACCTGGCTCAGAGGGTCCTAC
GCCCACGGAATCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACGGC
AAGGCGGCAACGAGGCTGTGGGAGGGGCGCCCGCCATTGCCCAGGCTTGC
TTAGGTAAACAAAGCAGCTGGGAAGCTCGAACTGGGTGGAGCCCACCACA
GCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGC
ACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTG
TCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGAT
CTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACCCCTGACCCC
CGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTC
ACACAGCAGGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAG
AAGGAAAACTAACAACCAGAAAGGACATCTACACCGAAAACCCATCTGTA
CATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAA
AAAACAGAACAGAAAAACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTC
CTCCAAAGGAACGCAGTTCCTCACCAGCAACAGAACAAAGCTGGATGGAG
AATGATTTTGACGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTC
TGAGCTACGGGAGGACATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTG
AAAAAAATTTAGAAGAATGTATAACTAGAATAACCAATACAGAGAAGTGC
TTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGA
ATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATCAG
CAATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAA
AAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGT
GAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGA
ATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTC
CCCAATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAAC
GCCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCA
GATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAG
AAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCAGACTAACAGCGGATCT
CTTGGCAGAAACCCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACA
TTCTTAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTA
AGCTTCATAAGTGAAGGAGAAATAAAATACTTTATAGACAAGCAAATGCT
GAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAG
CGCTAAACATGGAAAGGAACAACCGGTACCAGCCGCTGCAAAATCATGCC
AAAATGTAAAGACCATCGAGACTAGGAGGAAACTGCATCAACTAATGAGC
AAAATCACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAA
TATTAACTTTAAATATAAATGGACTAAATTCTGCAATTAAAAGACACAGA
CTGGCAAGTTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGA
AACCCATCTCACGTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGA
GGAAGATCTACCAAGCCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATC
CTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAA
AGAAGGCCATTACATAATGGTGAAGGGATCAATTCAACAAGAGGAGCTAA
CTATCCTAAATATTTATGCACCCAATACAGGAGCACCCAGATTCATAAAG
CAAGTCCTGAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAAT
GGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGA
AAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAGAC
CTAATAGACATCAACAGAACTCTCCACCCCAAATCAACAGAGTATACATT
TTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAA
GTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTAT
CTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCAC
TCAAAGCCGCTCAACTCCATGGAAACTGAACAACCTGCTCCTGAATGACT
ACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACC
AACAAGAACAAAGACACCACATACCAGAATCTCTGGGACGCATTCAAAGC
AGTGTGTAGAGGGAAATTTATAGCACTAAATGCCTACAAGAGAAAGCAGG
AAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAG
CAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACGAAAAT
CAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCA
ATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCG
CTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAAT
AAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTA
CCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTA
GAAGAAATGGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCA
GGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGTGG
CAATAATCAATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTC
ACAGCCGAATTCTACCAGAGGTACAAGGAGGAGCTGGTACCATTCCTTCT
GAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTT
ATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACAAAA
AAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCT
CAATAAAATACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCC
ACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATA
CGCAAATCAATAAATGTAATCCAGCATATAAACATAGCCAAAGACAAAAA
CCACATGATTATCTCAATAGACGCAGAAAAAGCCTTTGACAAAATTCAAC
AACCCTTCATGCTAAAAACTCAATAAATTAGGTATTGATGGGACGTATTT
CAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGA
ATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGA
TGCCCTCTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAG
GGCAATCAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGG
AAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTTTATCTAGAAAAC
CCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAA
AGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACA
CCAAAAACAGACAAACAGAGAGCCAACTCATGAGTGAACTCCCATTCACA
ATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGT
GAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAG
AGGACACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATC
AATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGC
CATCCCCTTCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTA
CTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATCGCCAAGTCAATC
CTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACT
ATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACA
GAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCAT
ATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGG
AAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATAT
GTAGAAGGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAAT
TCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCT
AGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACT
TCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAA
TGGGATCTAATTAAACTCAAGAGCTTCTGCACAGCAAAAGAAACTACCAT
CAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACT
CATCTGACAAAGGTCTAATATCCAGAATCTACAATGAACTCAAACAAATT
TACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAA
CAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGA
AATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATG
AGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAA
CAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTT
GGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTC
CTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACT
GGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCA
CACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAA
CCCAAATGTCCAACAATGATAGACTGGATTAAGCAAATGTGGCACATATA
CACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTG
TAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAA
GAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAAC
AATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGT
GGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATG
CTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACA
TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT
AATAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA
 T
T
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+2291_7351-412
others(4): Show 
c.7350+2291_7351-4126del
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874764
chr6:51874770 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7351-4131G>A
c.7351-4131G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874770
chr6:51874932 G
G
 A
A
 3 a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 3 NA18975.hp2
NA18989.hp1
NA19090.hp1
NA18975.hp2
NA18989.hp1
NA19090.hp1
 intron_variant MODIFIER c.7351-4293C>T
c.7351-4293C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874932
chr6:51874966 A
A
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7351-4327T>G
c.7351-4327T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51874966
chr6:51875128 G
G
 A
A
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.7351-4489C>T
c.7351-4489C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875128
chr6:51875161 G
G
 T
T
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.7351-4522C>A
c.7351-4522C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875161
chr6:51875232 T
T
 C
C
 61 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(58): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0094t0001g0131
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0005c0038t0001g0034
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0016c0090t0001g0120
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 61 HG00423.hp2
HG00738.hp1
HG00741.hp1
others(58): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.7351-4593A>G
c.7351-4593A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875232
chr6:51875233 G
G
 C
C
 2 a0008c0053t0016g0069
a0042c0035t0006g0059
a0008c0053t0016g0069
a0042c0035t0006g0059
 2 HG02965.hp2
HG02970.hp1
HG02965.hp2
HG02970.hp1
 intron_variant MODIFIER c.7351-4594C>G
c.7351-4594C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875233
chr6:51875288 G
G
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7351-4649C>G
c.7351-4649C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875288
chr6:51875401 C
C
 T
T
 4 a0001c0094t0001g0131
a0008c0018t0020g0074
a0011c0017t0005g0080
others(1): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0011c0017t0005g0080
a0037c0060t0005g0022
 4 HG02809.hp1
HG02922.hp1
HG03098.hp1
others(1): Show 
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03540.hp1
 intron_variant MODIFIER c.7351-4762G>A
c.7351-4762G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875401
chr6:51875649 C
C
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7351-5010G>T
c.7351-5010G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875649
chr6:51875693 A
A
 C
C
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.7351-5054T>G
c.7351-5054T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51875693
chr6:51876158 T
T
 G
G
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.7351-5519A>C
c.7351-5519A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876158
chr6:51876338 A
A
 G
G
 15 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(12): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 15 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(12): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7351-5699T>C
c.7351-5699T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876338
chr6:51876408 G
G
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.7351-5769C>T
c.7351-5769C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876408
chr6:51876416 T
T
 C
C
 2 a0026c0073t0005g0094
a0045c0084t0006g0087
a0026c0073t0005g0094
a0045c0084t0006g0087
 2 HG02717.hp1
HG03041.hp1
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.7351-5777A>G
c.7351-5777A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876416
chr6:51876513 A
A
 G
G
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7351-5874T>C
c.7351-5874T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876513
chr6:51876548 T
T
 C
C
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.7351-5909A>G
c.7351-5909A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876548
chr6:51876638 G
G
 A
A
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.7351-5999C>T
c.7351-5999C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876638
chr6:51876756 C
C
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7351-6117G>C
c.7351-6117G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876756
chr6:51876778 A
A
 G
G
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.7351-6139T>C
c.7351-6139T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876778
chr6:51876815 T
T
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7351-6176A>T
c.7351-6176A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876815
chr6:51876821 G
G
 A
A
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7351-6182C>T
c.7351-6182C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876821
chr6:51876875 C
C
 T
T
 6 a0003c0012t0001g0032
a0007c0003t0001g0006
a0007c0003t0001g0008
others(3): Show 
a0003c0012t0001g0032
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 6 HG00423.hp2
NA18975.hp2
NA18989.hp1
others(3): Show 
HG00423.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+6218G>A
c.7350+6218G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876875
chr6:51876930 C
C
 A
A
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+6163G>T
c.7350+6163G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51876930
chr6:51877019 G
G
 A
A
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+6074C>T
c.7350+6074C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877019
chr6:51877035 G
G
 A
A
 24 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(21): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 24 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(21): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+6058C>T
c.7350+6058C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877035
chr6:51877038 G
G
 C
C
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+6055C>G
c.7350+6055C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877038
chr6:51877056 G
G
 A
A
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+6037C>T
c.7350+6037C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877056
chr6:51877060 C
C
 T
T
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+6033G>A
c.7350+6033G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877060
chr6:51877077 T
T
 A
A
 5 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(2): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
 5 NA18975.hp2
NA18989.hp1
NA19003.hp1
others(2): Show 
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+6016A>T
c.7350+6016A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877077
chr6:51877259 C
C
 A
A
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.7350+5834G>T
c.7350+5834G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877259
chr6:51877566 C
C
 T
T
 16 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(13): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
a0045c0084t0006g0087
 16 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(13): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7350+5527G>A
c.7350+5527G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877566
chr6:51877567 A
A
 G
G
 42 a0001c0009t0001g0106
a0001c0010t0001g0077
a0001c0010t0001g0078
others(39): Show 
a0001c0009t0001g0106
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0094t0001g0131
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0005c0038t0001g0034
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 42 HG00423.hp2
HG00741.hp1
HG01071.hp1
others(39): Show 
HG00423.hp2
HG00741.hp1
HG01071.hp1
HG01074.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG02055.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+5526T>C
c.7350+5526T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877567
chr6:51877581 C
C
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.7350+5512G>T
c.7350+5512G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877581
chr6:51877758 G
G
 T
T
 19 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(16): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 19 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(16): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+5335C>A
c.7350+5335C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877758
chr6:51877873 C
C
 A
A
 1 a0029c0070t0008g0090
a0029c0070t0008g0090
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.7350+5220G>T
c.7350+5220G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877873
chr6:51877941 C
C
 T
T
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.7350+5152G>A
c.7350+5152G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51877941
chr6:51878169 C
C
 T
T
 3 a0005c0038t0001g0034
a0027c0069t0018g0092
a0039c0066t0003g0098
a0005c0038t0001g0034
a0027c0069t0018g0092
a0039c0066t0003g0098
 3 HG02897.hp2
HG03098.hp2
HG06807.hp1
HG02897.hp2
HG03098.hp2
HG06807.hp1
 intron_variant MODIFIER c.7350+4924G>A
c.7350+4924G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878169
chr6:51878181 G
G
 C
C
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7350+4912C>G
c.7350+4912C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878181
chr6:51878383 C
C
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+4710G>A
c.7350+4710G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878383
chr6:51878581 A
A
 ACT
ACT
 42 a0001c0009t0001g0106
a0001c0010t0001g0077
a0001c0010t0001g0078
others(39): Show 
a0001c0009t0001g0106
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0094t0001g0131
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0004c0006t0002g0048
a0005c0038t0001g0034
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0019c0049t0001g0035
a0020c0050t0001g0023
a0022c0042t0002g0051
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 42 HG00423.hp2
HG00741.hp1
HG01071.hp1
others(39): Show 
HG00423.hp2
HG00741.hp1
HG01071.hp1
HG01074.hp1
HG01175.hp1
HG01255.hp1
HG01261.hp1
HG02055.hp1
HG02280.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+4510_7350+451
others(6): Show 
c.7350+4510_7350+4511dupAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878581
chr6:51878607 C
C
 T
T
 1 a0004c0006t0002g0055
a0004c0006t0002g0055
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.7350+4486G>A
c.7350+4486G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878607
chr6:51878728 G
G
 A
A
 17 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(14): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0019c0049t0001g0035
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0043c0063t0005g0066
 17 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02698.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+4365C>T
c.7350+4365C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878728
chr6:51878895 T
T
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7350+4198A>C
c.7350+4198A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878895
chr6:51878968 A
A
 C
C
 19 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(16): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 19 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(16): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+4125T>G
c.7350+4125T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51878968
chr6:51879070 C
C
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.7350+4023G>T
c.7350+4023G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879070
chr6:51879221 T
T
 A
A
 35 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(32): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0094t0001g0131
a0002c0079t0007g0089
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0005c0038t0001g0034
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 35 HG00423.hp2
HG00741.hp1
HG01071.hp1
others(32): Show 
HG00423.hp2
HG00741.hp1
HG01071.hp1
HG01074.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG04204.hp1
HG06807.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+3872A>T
c.7350+3872A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879221
chr6:51879283 C
C
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.7350+3810G>T
c.7350+3810G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879283
chr6:51879346 A
A
 C
C
 16 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(13): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0043c0063t0005g0066
 16 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+3747T>G
c.7350+3747T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879346
chr6:51879364 A
A
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7350+3729T>A
c.7350+3729T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879364
chr6:51879452 A
A
 G
G
 2 a0001c0022t0001g0129
a0003c0041t0001g0046
a0001c0022t0001g0129
a0003c0041t0001g0046
 2 HG01071.hp1
NA20752.hp2
HG01071.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+3641T>C
c.7350+3641T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879452
chr6:51879459 C
C
 T
T
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+3634G>A
c.7350+3634G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879459
chr6:51879501 A
A
 G
G
 35 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(32): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0094t0001g0131
a0002c0079t0007g0089
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0005c0038t0001g0034
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 35 HG00423.hp2
HG00741.hp1
HG01071.hp1
others(32): Show 
HG00423.hp2
HG00741.hp1
HG01071.hp1
HG01074.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG04204.hp1
HG06807.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+3592T>C
c.7350+3592T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51879501
chr6:51880397 C
C
 A
A
 1 a0030c0055t0002g0072
a0030c0055t0002g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.7350+2696G>T
c.7350+2696G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880397
chr6:51880533 G
G
 A
A
 19 a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0019t0001g0097
others(16): Show 
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0009c0054t0001g0082
a0016c0090t0001g0120
a0030c0055t0002g0072
 19 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(16): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG02015.hp2
HG02155.hp1
HG02451.hp2
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02976.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7350+2560C>T
c.7350+2560C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880533
chr6:51880721 C
C
 G
G
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.7350+2372G>C
c.7350+2372G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880721
chr6:51880776 AATT
AATT
 A
A
 6 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0032
others(3): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0032
a0003c0041t0001g0046
a0019c0049t0001g0035
a0020c0050t0001g0023
 6 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(3): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
NA18964.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+2314_7350+231
others(7): Show 
c.7350+2314_7350+2316delAAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880776
chr6:51880777 ATT
ATT
 A
A
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0012t0001g0025
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0012t0001g0025
 3 HG02922.hp2
HG02976.hp1
HG04204.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
 intron_variant MODIFIER c.7350+2314_7350+231
others(6): Show 
c.7350+2314_7350+2315delAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880777
chr6:51880778 T
T
 A
A
 1 a0003c0013t0001g0054
a0003c0013t0001g0054
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.7350+2315A>T
c.7350+2315A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880778
chr6:51880779 T
T
 TA
TA
 6 a0004c0006t0002g0048
a0011c0017t0005g0080
a0031c0057t0013g0067
others(3): Show 
a0004c0006t0002g0048
a0011c0017t0005g0080
a0031c0057t0013g0067
a0033c0059t0008g0001
a0039c0066t0003g0098
a0043c0063t0005g0066
 6 HG02055.hp1
HG02896.hp1
HG03471.hp2
others(3): Show 
HG02055.hp1
HG02896.hp1
HG03471.hp2
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+2313dupT
c.7350+2313dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880779
chr6:51880779 T
T
 TAA
TAA
 7 a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
others(4): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
a0028c0071t0012g0093
a0029c0070t0008g0090
a0032c0058t0001g0070
a0037c0060t0005g0022
 7 HG00741.hp1
HG01175.hp1
HG02809.hp1
others(4): Show 
HG00741.hp1
HG01175.hp1
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03516.hp1
 intron_variant MODIFIER c.7350+2312_7350+231
others(6): Show 
c.7350+2312_7350+2313dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880779
chr6:51880779 TA
TA
 T
T
 13 a0001c0009t0001g0106
a0002c0021t0004g0130
a0002c0031t0003g0014
others(10): Show 
a0001c0009t0001g0106
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0016t0001g0027
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0006c0078t0005g0104
a0022c0042t0002g0051
 13 HG01071.hp2
HG01255.hp2
HG01261.hp1
others(10): Show 
HG01071.hp2
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02155.hp1
HG02451.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG04204.hp2
HG04228.hp1
NA19240.hp2
 intron_variant MODIFIER c.7350+2313delT
c.7350+2313delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880779
chr6:51880779 TAA
TAA
 T
T
 5 a0001c0009t0001g0123
a0002c0021t0004g0128
a0005c0037t0001g0038
others(2): Show 
a0001c0009t0001g0123
a0002c0021t0004g0128
a0005c0037t0001g0038
a0016c0090t0001g0120
a0046c0067t0003g0112
 5 HG00738.hp1
HG01074.hp1
HG01081.hp2
others(2): Show 
HG00738.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG02717.hp2
 intron_variant MODIFIER c.7350+2312_7350+231
others(6): Show 
c.7350+2312_7350+2313delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880779
chr6:51880781 A
A
 T
T
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0012t0001g0025
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0012t0001g0025
a0003c0013t0001g0054
 4 HG02922.hp2
HG02976.hp1
HG04204.hp1
others(1): Show 
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA19240.hp2
 intron_variant MODIFIER c.7350+2312T>A
c.7350+2312T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880781
chr6:51880782 A
A
 T
T
 9 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(6): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0019c0049t0001g0035
a0020c0050t0001g0023
 9 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(6): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+2311T>A
c.7350+2311T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880782
chr6:51880783 A
A
 T
T
 10 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0032
others(7): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 10 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(7): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
NA18964.hp1
NA18975.hp2
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.7350+2310T>A
c.7350+2310T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880783
chr6:51880784 A
A
 T
T
 6 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(3): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0044c0075t0001g0119
a0045c0084t0006g0087
 6 HG03041.hp1
NA18975.hp2
NA18989.hp1
others(3): Show 
HG03041.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.7350+2309T>A
c.7350+2309T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880784
chr6:51880785 A
A
 T
T
 2 a0007c0003t0001g0011
a0045c0084t0006g0087
a0007c0003t0001g0011
a0045c0084t0006g0087
 2 HG03041.hp1
NA18989.hp1
HG03041.hp1
NA18989.hp1
 intron_variant MODIFIER c.7350+2308T>A
c.7350+2308T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880785
chr6:51880808 C
C
 T
T
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+2285G>A
c.7350+2285G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880808
chr6:51880993 C
C
 T
T
 1 a0006c0076t0005g0088
a0006c0076t0005g0088
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.7350+2100G>A
c.7350+2100G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51880993
chr6:51881075 C
C
 CT
CT
 54 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(51): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0029c0070t0008g0090
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 54 HG00738.hp2
HG01081.hp1
HG01106.hp2
others(51): Show 
HG00738.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19007.hp1
NA19054.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+2017dupA
c.7350+2017dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881075
chr6:51881075 C
C
 CTT
CTT
 10 a0001c0002t0001g0083
a0001c0094t0001g0131
a0002c0004t0004g0115
others(7): Show 
a0001c0002t0001g0083
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0005t0002g0018
a0004c0046t0002g0050
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0037c0060t0005g0022
 10 HG02055.hp2
HG02280.hp2
HG02809.hp1
others(7): Show 
HG02055.hp2
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03486.hp1
HG03540.hp1
HG03704.hp1
NA18975.hp1
NA19005.hp1
NA19090.hp2
 intron_variant MODIFIER c.7350+2016_7350+201
others(6): Show 
c.7350+2016_7350+2017dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881075
chr6:51881075 CT
CT
 C
C
 27 a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
others(24): Show 
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0053t0016g0069
a0009c0054t0001g0082
a0016c0090t0001g0120
a0022c0042t0002g0051
a0030c0055t0002g0072
a0046c0067t0003g0112
a0047c0051t0004g0056
 27 HG00738.hp1
HG01071.hp2
HG01074.hp1
others(24): Show 
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01255.hp2
HG01261.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.7350+2017delA
c.7350+2017delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881075
chr6:51881123 A
A
 G
G
 7 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0006c0011t0005g0063
a0048c0023t0017g0081
 7 HG02257.hp2
HG02451.hp1
HG02622.hp1
others(4): Show 
HG02257.hp2
HG02451.hp1
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
 intron_variant MODIFIER c.7350+1970T>C
c.7350+1970T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881123
chr6:51881176 A
A
 AT
AT
 9 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0006c0011t0005g0063
a0020c0050t0001g0023
a0038c0062t0002g0065
a0041c0088t0006g0114
 9 HG02257.hp2
HG02280.hp1
HG02451.hp1
others(6): Show 
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02683.hp2
HG02809.hp2
HG02965.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
 intron_variant MODIFIER c.7350+1916dupA
c.7350+1916dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881176
chr6:51881292 G
G
 A
A
 53 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(50): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 53 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(50): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+1801C>T
c.7350+1801C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881292
chr6:51881482 A
A
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+1611T>G
c.7350+1611T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881482
chr6:51881660 G
G
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.7350+1433C>T
c.7350+1433C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881660
chr6:51881789 G
G
 T
T
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.7350+1304C>A
c.7350+1304C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881789
chr6:51881815 C
C
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7350+1278G>T
c.7350+1278G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881815
chr6:51881959 T
T
 C
C
 53 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(50): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 53 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(50): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+1134A>G
c.7350+1134A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881959
chr6:51881970 C
C
 G
G
 72 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 72 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(69): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+1123G>C
c.7350+1123G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51881970
chr6:51882291 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7350+802T>C
c.7350+802T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51882291
chr6:51882423 A
A
 G
G
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.7350+670T>C
c.7350+670T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51882423
chr6:51882626 C
C
 T
T
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.7350+467G>A
c.7350+467G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51882626
chr6:51882660 G
G
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.7350+433C>A
c.7350+433C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51882660
chr6:51882725 T
T
 C
C
 53 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(50): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 53 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(50): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+368A>G
c.7350+368A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51882725
chr6:51882790 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7350+303T>C
c.7350+303T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51882790
chr6:51882791 T
T
 C
C
 113 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(110): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 113 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(110): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7350+302A>G
c.7350+302A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 46/66 chr6 51882791
chr6:51883267 G
G
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7216-40C>A
c.7216-40C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51883267
chr6:51883399 CTAA
CTAA
 C
C
 15 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(12): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 15 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(12): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.7216-175_7216-173d
others(5): Show 
c.7216-175_7216-173delTTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51883399
chr6:51883691 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7216-464T>C
c.7216-464T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51883691
chr6:51883756 A
A
 C
C
 114 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(111): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 114 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(111): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7216-529T>G
c.7216-529T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51883756
chr6:51883904 C
C
 G
G
 18 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(15): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 18 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(15): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.7216-677G>C
c.7216-677G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51883904
chr6:51884005 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7216-778T>C
c.7216-778T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884005
chr6:51884121 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7216-894G>A
c.7216-894G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884121
chr6:51884241 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7216-1014G>A
c.7216-1014G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884241
chr6:51884333 G
G
 C
C
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.7216-1106C>G
c.7216-1106C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884333
chr6:51884352 A
A
 G
G
 114 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(111): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 114 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(111): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7216-1125T>C
c.7216-1125T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884352
chr6:51884535 C
C
 T
T
 130 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(127): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 130 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(127): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7216-1308G>A
c.7216-1308G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884535
chr6:51884575 CAAGAATA
others(13): Show 
CAAGAATATTTTTATTATTTA
 C
C
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.7215+1272_7215+129
others(24): Show 
c.7215+1272_7215+1291delTAAATAATAAAAATATTCTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884575
chr6:51884667 T
T
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7215+1200A>T
c.7215+1200A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884667
chr6:51884864 AGGGT
AGGGT
 A
A
 117 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(114): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 117 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(114): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7215+999_7215+1002
others(7): Show 
c.7215+999_7215+1002delACCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51884864
chr6:51885024 G
G
 C
C
 2 a0009c0056t0001g0073
a0011c0017t0005g0071
a0009c0056t0001g0073
a0011c0017t0005g0071
 2 HG02280.hp2
HG03486.hp1
HG02280.hp2
HG03486.hp1
 intron_variant MODIFIER c.7215+843C>G
c.7215+843C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51885024
chr6:51885114 T
T
 C
C
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7215+753A>G
c.7215+753A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51885114
chr6:51885319 A
A
 G
G
 1 a0032c0058t0001g0070
a0032c0058t0001g0070
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.7215+548T>C
c.7215+548T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51885319
chr6:51885399 G
G
 A
A
 49 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(46): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 49 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(46): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7215+468C>T
c.7215+468C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51885399
chr6:51885675 T
T
 C
C
 1 a0003c0012t0001g0025
a0003c0012t0001g0025
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.7215+192A>G
c.7215+192A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51885675
chr6:51885716 T
T
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.7215+151A>T
c.7215+151A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51885716
chr6:51885765 A
A
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7215+102T>A
c.7215+102T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 45/66 chr6 51885765
chr6:51885979 A
A
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 splice_region_variant&intron_variant LOW c.7110-7T>A
c.7110-7T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51885979
chr6:51886034 T
T
 C
C
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7110-62A>G
c.7110-62A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886034
chr6:51886163 G
G
 A
A
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.7110-191C>T
c.7110-191C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886163
chr6:51886437 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.7110-465T>C
c.7110-465T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886437
chr6:51886513 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7110-541C>T
c.7110-541C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886513
chr6:51886537 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7110-565C>T
c.7110-565C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886537
chr6:51886591 T
T
 C
C
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.7109+542A>G
c.7109+542A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886591
chr6:51886923 A
A
 G
G
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.7109+210T>C
c.7109+210T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886923
chr6:51886954 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.7109+179G>A
c.7109+179G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 44/66 chr6 51886954
chr6:51887443 C
C
 T
T
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 15 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(12): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02965.hp1
HG03139.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6997-198G>A
c.6997-198G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51887443
chr6:51887595 C
C
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-350G>C
c.6997-350G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51887595
chr6:51887832 C
C
 A
A
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.6997-587G>T
c.6997-587G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51887832
chr6:51888008 T
T
 C
C
 52 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(49): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 52 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(49): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-763A>G
c.6997-763A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888008
chr6:51888033 T
T
 C
C
 1 a0009c0056t0001g0073
a0009c0056t0001g0073
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.6997-788A>G
c.6997-788A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888033
chr6:51888084 C
C
 T
T
 52 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(49): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 52 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(49): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-839G>A
c.6997-839G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888084
chr6:51888089 T
T
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6997-844A>T
c.6997-844A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888089
chr6:51888165 A
A
 G
G
 20 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(17): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 20 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(17): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
HG06807.hp2
NA20300.hp1
 intron_variant MODIFIER c.6997-920T>C
c.6997-920T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888165
chr6:51888192 C
C
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-947G>T
c.6997-947G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888192
chr6:51888201 A
A
 G
G
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.6997-956T>C
c.6997-956T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888201
chr6:51888212 G
G
 A
A
 20 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(17): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 20 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(17): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
HG06807.hp2
NA20300.hp1
 intron_variant MODIFIER c.6997-967C>T
c.6997-967C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888212
chr6:51888299 C
C
 T
T
 4 a0001c0061t0001g0064
a0001c0083t0001g0125
a0018c0052t0006g0086
others(1): Show 
a0001c0061t0001g0064
a0001c0083t0001g0125
a0018c0052t0006g0086
a0048c0023t0017g0081
 4 HG02622.hp1
HG03139.hp1
HG03453.hp1
others(1): Show 
HG02622.hp1
HG03139.hp1
HG03453.hp1
NA20129.hp1
 intron_variant MODIFIER c.6997-1054G>A
c.6997-1054G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888299
chr6:51888459 A
A
 AT
AT
 4 a0001c0083t0001g0125
a0009c0054t0001g0082
a0038c0062t0002g0065
others(1): Show 
a0001c0083t0001g0125
a0009c0054t0001g0082
a0038c0062t0002g0065
a0041c0088t0006g0114
 4 HG02280.hp1
HG02976.hp2
HG03041.hp2
others(1): Show 
HG02280.hp1
HG02976.hp2
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.6997-1215dupA
c.6997-1215dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888459
chr6:51888463 T
T
 A
A
 1 a0003c0016t0001g0028
a0003c0016t0001g0028
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.6997-1218A>T
c.6997-1218A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888463
chr6:51888469 G
G
 T
T
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6997-1224C>A
c.6997-1224C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888469
chr6:51888653 G
G
 T
T
 19 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(16): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0018c0052t0006g0086
a0025c0072t0001g0095
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 19 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(16): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG06807.hp2
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6997-1408C>A
c.6997-1408C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888653
chr6:51888804 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-1559C>T
c.6997-1559C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51888804
chr6:51889019 C
C
 T
T
 19 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(16): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 19 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(16): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-1774G>A
c.6997-1774G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51889019
chr6:51889063 G
G
 T
T
 17 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(14): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
 17 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-1818C>A
c.6997-1818C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51889063
chr6:51889522 G
G
 A
A
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.6997-2277C>T
c.6997-2277C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51889522
chr6:51889672 T
T
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-2427A>T
c.6997-2427A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51889672
chr6:51889838 G
G
 C
C
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-2593C>G
c.6997-2593C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51889838
chr6:51889932 T
T
 G
G
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.6997-2687A>C
c.6997-2687A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51889932
chr6:51890012 A
A
 G
G
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.6997-2767T>C
c.6997-2767T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890012
chr6:51890288 G
G
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-3043C>A
c.6997-3043C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890288
chr6:51890373 G
G
 A
A
 8 a0001c0009t0001g0106
a0002c0031t0003g0014
a0004c0006t0002g0048
others(5): Show 
a0001c0009t0001g0106
a0002c0031t0003g0014
a0004c0006t0002g0048
a0004c0014t0004g0024
a0006c0076t0005g0088
a0008c0053t0016g0069
a0022c0042t0002g0051
a0047c0051t0004g0056
 8 HG01081.hp1
HG01261.hp1
HG02055.hp1
others(5): Show 
HG01081.hp1
HG01261.hp1
HG02055.hp1
HG02486.hp1
HG02965.hp2
HG03139.hp2
HG03239.hp2
HG04204.hp2
 intron_variant MODIFIER c.6997-3128C>T
c.6997-3128C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890373
chr6:51890379 G
G
 A
A
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-3134C>T
c.6997-3134C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890379
chr6:51890395 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-3150A>G
c.6997-3150A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890395
chr6:51890405 TC
TC
 T
T
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.6997-3161delG
c.6997-3161delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890405
chr6:51890424 C
C
 T
T
 52 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(49): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 52 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(49): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-3179G>A
c.6997-3179G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890424
chr6:51890472 C
C
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.6997-3227G>A
c.6997-3227G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890472
chr6:51890546 G
G
 GA
GA
 9 a0001c0094t0001g0131
a0005c0038t0001g0034
a0008c0018t0020g0074
others(6): Show 
a0001c0094t0001g0131
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0037c0060t0005g0022
a0039c0066t0003g0098
 9 HG02280.hp2
HG02809.hp1
HG02897.hp2
others(6): Show 
HG02280.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03540.hp1
HG06807.hp1
 intron_variant MODIFIER c.6997-3302dupT
c.6997-3302dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890546
chr6:51890627 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6997-3382G>A
c.6997-3382G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890627
chr6:51890706 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6997-3461C>T
c.6997-3461C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51890706
chr6:51891083 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-3838G>A
c.6997-3838G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891083
chr6:51891115 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-3870G>A
c.6997-3870G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891115
chr6:51891357 G
G
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.6997-4112C>T
c.6997-4112C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891357
chr6:51891516 T
T
 C
C
 3 a0002c0004t0003g0126
a0004c0064t0003g0053
a0017c0089t0002g0116
a0002c0004t0003g0126
a0004c0064t0003g0053
a0017c0089t0002g0116
 3 HG01243.hp2
HG03239.hp1
HG03669.hp2
HG01243.hp2
HG03239.hp1
HG03669.hp2
 intron_variant MODIFIER c.6997-4271A>G
c.6997-4271A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891516
chr6:51891578 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6997-4333G>A
c.6997-4333G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891578
chr6:51891648 C
C
 A
A
 52 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(49): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 52 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(49): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-4403G>T
c.6997-4403G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891648
chr6:51891696 C
C
 CA
CA
 2 a0038c0062t0002g0065
a0041c0088t0006g0114
a0038c0062t0002g0065
a0041c0088t0006g0114
 2 HG02280.hp1
HG03041.hp2
HG02280.hp1
HG03041.hp2
 intron_variant MODIFIER c.6997-4452dupT
c.6997-4452dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891696
chr6:51891712 A
A
 AAC
AAC
 14 a0001c0002t0001g0107
a0001c0009t0001g0123
a0001c0094t0001g0131
others(11): Show 
a0001c0002t0001g0107
a0001c0009t0001g0123
a0001c0094t0001g0131
a0002c0021t0004g0128
a0002c0079t0007g0089
a0002c0080t0002g0121
a0003c0007t0001g0043
a0004c0006t0002g0048
a0004c0008t0004g0045
a0005c0038t0001g0034
a0012c0027t0002g0005
a0023c0044t0001g0044
a0037c0060t0005g0022
a0040c0081t0001g0124
 14 HG00738.hp1
HG01175.hp2
HG01255.hp1
others(11): Show 
HG00738.hp1
HG01175.hp2
HG01255.hp1
HG01952.hp1
HG02055.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG03098.hp2
NA18971.hp1
NA18988.hp2
NA19001.hp1
NA19001.hp2
NA19054.hp1
 intron_variant MODIFIER c.6997-4469_6997-446
others(6): Show 
c.6997-4469_6997-4468dupGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891712
chr6:51891712 A
A
 AACAC
AACAC
 18 a0001c0019t0001g0118
a0001c0022t0001g0129
a0002c0004t0010g0101
others(15): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0002c0004t0010g0101
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0029c0070t0008g0090
a0033c0059t0008g0001
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 18 HG00423.hp2
HG01071.hp1
HG01175.hp1
others(15): Show 
HG00423.hp2
HG01071.hp1
HG01175.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02970.hp1
HG03041.hp1
HG03471.hp2
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.6997-4471_6997-446
others(8): Show 
c.6997-4471_6997-4468dupGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891712
chr6:51891712 A
A
 AACACACA
others(1): Show 
AACACACAC
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.6997-4475_6997-446
others(12): Show 
c.6997-4475_6997-4468dupGTGTGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891712
chr6:51891712 A
A
 AACACACA
others(3): Show 
AACACACACAC
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-4477_6997-446
others(14): Show 
c.6997-4477_6997-4468dupGTGTGTGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891712
chr6:51891712 AAC
AAC
 A
A
 7 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
others(4): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0018c0052t0006g0086
a0035c0086t0001g0109
a0048c0023t0017g0081
 7 HG01952.hp2
HG02451.hp1
HG02622.hp1
others(4): Show 
HG01952.hp2
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03139.hp1
HG03453.hp1
NA20129.hp1
 intron_variant MODIFIER c.6997-4469_6997-446
others(6): Show 
c.6997-4469_6997-4468delGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891712
chr6:51891712 AACAC
AACAC
 A
A
 5 a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
a0026c0073t0005g0094
a0034c0085t0004g0096
 5 HG00423.hp1
HG02257.hp2
HG02717.hp1
others(2): Show 
HG00423.hp1
HG02257.hp2
HG02717.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.6997-4471_6997-446
others(8): Show 
c.6997-4471_6997-4468delGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891712
chr6:51891712 AACACACA
others(1): Show 
AACACACAC
 A
A
 7 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(4): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 7 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(4): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6997-4475_6997-446
others(12): Show 
c.6997-4475_6997-4468delGTGTGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891712
chr6:51891819 T
T
 C
C
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6997-4574A>G
c.6997-4574A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891819
chr6:51891853 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-4608G>A
c.6997-4608G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891853
chr6:51891959 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-4714C>T
c.6997-4714C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891959
chr6:51891986 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.6997-4741G>A
c.6997-4741G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51891986
chr6:51892017 A
A
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6997-4772T>C
c.6997-4772T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892017
chr6:51892088 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6997-4843C>T
c.6997-4843C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892088
chr6:51892216 C
C
 T
T
 70 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(67): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 70 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(67): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-4971G>A
c.6997-4971G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892216
chr6:51892390 G
G
 A
A
 1 a0003c0013t0001g0054
a0003c0013t0001g0054
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.6997-5145C>T
c.6997-5145C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892390
chr6:51892563 G
G
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.6997-5318C>G
c.6997-5318C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892563
chr6:51892699 C
C
 T
T
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 15 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(12): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02965.hp1
HG03139.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6997-5454G>A
c.6997-5454G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892699
chr6:51892710 T
T
 C
C
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.6997-5465A>G
c.6997-5465A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892710
chr6:51892742 C
C
 T
T
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.6997-5497G>A
c.6997-5497G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892742
chr6:51892884 C
C
 T
T
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.6997-5639G>A
c.6997-5639G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892884
chr6:51892924 T
T
 C
C
 15 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(12): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 15 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(12): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.6997-5679A>G
c.6997-5679A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892924
chr6:51892982 C
C
 T
T
 16 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(13): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0043c0063t0005g0066
 16 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-5737G>A
c.6997-5737G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51892982
chr6:51893031 C
C
 T
T
 19 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(16): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 19 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(16): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-5786G>A
c.6997-5786G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893031
chr6:51893079 G
G
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.6997-5834C>T
c.6997-5834C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893079
chr6:51893599 G
G
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6997-6354C>A
c.6997-6354C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893599
chr6:51893601 G
G
 A
A
 6 a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
others(3): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 6 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(3): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.6997-6356C>T
c.6997-6356C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893601
chr6:51893607 G
G
 A
A
 49 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(46): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0134
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 49 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(46): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6997-6362C>T
c.6997-6362C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893607
chr6:51893636 G
G
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-6391C>G
c.6997-6391C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893636
chr6:51893646 A
A
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-6401T>G
c.6997-6401T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893646
chr6:51893752 GA
GA
 G
G
 16 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(13): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0043c0063t0005g0066
 16 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-6508delT
c.6997-6508delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893752
chr6:51893759 A
A
 T
T
 16 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(13): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0043c0063t0005g0066
 16 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-6514T>A
c.6997-6514T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893759
chr6:51893821 G
G
 C
C
 1 a0001c0010t0001g0078
a0001c0010t0001g0078
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.6997-6576C>G
c.6997-6576C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893821
chr6:51893953 G
G
 A
A
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.6997-6708C>T
c.6997-6708C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893953
chr6:51893993 G
G
 C
C
 10 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(7): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0037c0060t0005g0022
a0039c0066t0003g0098
 10 HG01255.hp1
HG02280.hp2
HG02809.hp1
others(7): Show 
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03540.hp1
HG06807.hp1
 intron_variant MODIFIER c.6997-6748C>G
c.6997-6748C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51893993
chr6:51894081 A
A
 C
C
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.6997-6836T>G
c.6997-6836T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894081
chr6:51894185 G
G
 A
A
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.6997-6940C>T
c.6997-6940C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894185
chr6:51894299 C
C
 T
T
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.6997-7054G>A
c.6997-7054G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894299
chr6:51894398 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-7153G>A
c.6997-7153G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894398
chr6:51894407 G
G
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-7162C>A
c.6997-7162C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894407
chr6:51894440 C
C
 T
T
 20 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(17): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 20 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(17): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02717.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
HG06807.hp2
NA20300.hp1
 intron_variant MODIFIER c.6997-7195G>A
c.6997-7195G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894440
chr6:51894491 G
G
 C
C
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6997-7246C>G
c.6997-7246C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894491
chr6:51894498 T
T
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6997-7253A>C
c.6997-7253A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894498
chr6:51894755 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-7510G>A
c.6997-7510G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894755
chr6:51894799 C
C
 G
G
 2 a0002c0091t0007g0133
a0004c0006t0002g0055
a0002c0091t0007g0133
a0004c0006t0002g0055
 2 HG03516.hp2
HG03540.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.6997-7554G>C
c.6997-7554G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894799
chr6:51894812 C
C
 T
T
 16 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(13): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0043c0063t0005g0066
 16 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6997-7567G>A
c.6997-7567G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894812
chr6:51894864 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6997-7619C>T
c.6997-7619C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894864
chr6:51894899 T
T
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.6997-7654A>G
c.6997-7654A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894899
chr6:51894951 TAAC
TAAC
 T
T
 5 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0061t0001g0064
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0061t0001g0064
a0006c0011t0005g0063
a0048c0023t0017g0081
 5 HG02257.hp2
HG02622.hp1
HG02809.hp2
others(2): Show 
HG02257.hp2
HG02622.hp1
HG02809.hp2
HG03225.hp1
HG03453.hp1
 intron_variant MODIFIER c.6997-7709_6997-770
others(7): Show 
c.6997-7709_6997-7707delGTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894951
chr6:51894991 C
C
 G
G
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
 3 HG02257.hp2
HG02809.hp2
HG03225.hp1
HG02257.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.6997-7746G>C
c.6997-7746G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51894991
chr6:51895280 T
T
 G
G
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.6997-8035A>C
c.6997-8035A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895280
chr6:51895323 C
C
 A
A
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.6997-8078G>T
c.6997-8078G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895323
chr6:51895355 A
A
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6997-8110T>C
c.6997-8110T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895355
chr6:51895413 G
G
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6997-8168C>G
c.6997-8168C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895413
chr6:51895656 C
C
 T
T
 10 a0001c0019t0001g0118
a0003c0012t0001g0025
a0003c0012t0001g0032
others(7): Show 
a0001c0019t0001g0118
a0003c0012t0001g0025
a0003c0012t0001g0032
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 10 HG00423.hp2
HG02683.hp2
HG02698.hp1
others(7): Show 
HG00423.hp2
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
 intron_variant MODIFIER c.6996+7941G>A
c.6996+7941G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895656
chr6:51895714 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+7883C>T
c.6996+7883C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895714
chr6:51895717 A
A
 G
G
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 89 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+7880T>C
c.6996+7880T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895717
chr6:51895729 C
C
 T
T
 105 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(102): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 105 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(102): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+7868G>A
c.6996+7868G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895729
chr6:51895772 G
G
 A
A
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.6996+7825C>T
c.6996+7825C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895772
chr6:51895852 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6996+7745G>A
c.6996+7745G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895852
chr6:51895925 G
G
 A
A
 6 a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
others(3): Show 
a0001c0094t0001g0131
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0037c0060t0005g0022
 6 HG02280.hp2
HG02809.hp1
HG02922.hp1
others(3): Show 
HG02280.hp2
HG02809.hp1
HG02922.hp1
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.6996+7672C>T
c.6996+7672C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895925
chr6:51895972 C
C
 T
T
 2 a0038c0062t0002g0065
a0041c0088t0006g0114
a0038c0062t0002g0065
a0041c0088t0006g0114
 2 HG02280.hp1
HG03041.hp2
HG02280.hp1
HG03041.hp2
 intron_variant MODIFIER c.6996+7625G>A
c.6996+7625G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895972
chr6:51895976 A
A
 G
G
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+7621T>C
c.6996+7621T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51895976
chr6:51896007 G
G
 A
A
 51 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(48): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 51 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(48): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+7590C>T
c.6996+7590C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896007
chr6:51896032 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.6996+7565G>A
c.6996+7565G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896032
chr6:51896033 G
G
 A
A
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.6996+7564C>T
c.6996+7564C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896033
chr6:51896042 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
 3 HG02257.hp2
HG02809.hp2
HG03225.hp1
HG02257.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.6996+7555A>G
c.6996+7555A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896042
chr6:51896068 C
C
 G
G
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.6996+7529G>C
c.6996+7529G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896068
chr6:51896164 C
C
 T
T
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
 3 HG02257.hp2
HG02809.hp2
HG03225.hp1
HG02257.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.6996+7433G>A
c.6996+7433G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896164
chr6:51896193 G
G
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+7404C>G
c.6996+7404C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896193
chr6:51896222 GACAA
GACAA
 G
G
 18 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(15): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 18 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(15): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+7371_6996+737
others(8): Show 
c.6996+7371_6996+7374delTTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896222
chr6:51896234 A
A
 G
G
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 89 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+7363T>C
c.6996+7363T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896234
chr6:51896302 C
C
 T
T
 53 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
others(50): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 53 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(50): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+7295G>A
c.6996+7295G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896302
chr6:51896366 G
G
 A
A
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6996+7231C>T
c.6996+7231C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896366
chr6:51896506 C
C
 T
T
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
 3 HG02257.hp2
HG02809.hp2
HG03225.hp1
HG02257.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.6996+7091G>A
c.6996+7091G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896506
chr6:51896627 G
G
 T
T
 3 a0001c0002t0001g0083
a0002c0020t0003g0084
a0002c0033t0002g0017
a0001c0002t0001g0083
a0002c0020t0003g0084
a0002c0033t0002g0017
 3 NA18747.hp2
NA18975.hp1
NA18989.hp2
NA18747.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.6996+6970C>A
c.6996+6970C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896627
chr6:51896629 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+6968T>C
c.6996+6968T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896629
chr6:51896637 A
A
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+6960T>G
c.6996+6960T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896637
chr6:51896660 C
C
 T
T
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.6996+6937G>A
c.6996+6937G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896660
chr6:51896699 G
G
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+6898C>G
c.6996+6898C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896699
chr6:51896715 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+6882G>A
c.6996+6882G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896715
chr6:51896716 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+6881T>C
c.6996+6881T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896716
chr6:51896722 C
C
 T
T
 2 a0038c0062t0002g0065
a0041c0088t0006g0114
a0038c0062t0002g0065
a0041c0088t0006g0114
 2 HG02280.hp1
HG03041.hp2
HG02280.hp1
HG03041.hp2
 intron_variant MODIFIER c.6996+6875G>A
c.6996+6875G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896722
chr6:51896888 C
C
 T
T
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.6996+6709G>A
c.6996+6709G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896888
chr6:51896915 G
G
 A
A
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+6682C>T
c.6996+6682C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896915
chr6:51896982 G
G
 C
C
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6996+6615C>G
c.6996+6615C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51896982
chr6:51897004 G
G
 A
A
 7 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(4): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 7 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(4): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6996+6593C>T
c.6996+6593C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897004
chr6:51897124 C
C
 G
G
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+6473G>C
c.6996+6473G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897124
chr6:51897150 G
G
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6996+6447C>T
c.6996+6447C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897150
chr6:51897238 G
G
 A
A
 19 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(16): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 19 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(16): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
HG06807.hp2
NA20300.hp1
 intron_variant MODIFIER c.6996+6359C>T
c.6996+6359C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897238
chr6:51897271 G
G
 A
A
 51 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(48): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 51 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(48): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+6326C>T
c.6996+6326C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897271
chr6:51897343 T
T
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6996+6254A>T
c.6996+6254A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897343
chr6:51897412 G
G
 T
T
 3 a0002c0004t0010g0101
a0014c0024t0001g0004
a0019c0049t0001g0035
a0002c0004t0010g0101
a0014c0024t0001g0004
a0019c0049t0001g0035
 3 HG02683.hp1
HG02698.hp1
HG03669.hp1
HG02683.hp1
HG02698.hp1
HG03669.hp1
 intron_variant MODIFIER c.6996+6185C>A
c.6996+6185C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897412
chr6:51897487 C
C
 A
A
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.6996+6110G>T
c.6996+6110G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897487
chr6:51897505 T
T
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+6092A>T
c.6996+6092A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897505
chr6:51897506 G
G
 C
C
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.6996+6091C>G
c.6996+6091C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897506
chr6:51897528 T
T
 A
A
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 89 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+6069A>T
c.6996+6069A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897528
chr6:51897538 G
G
 A
A
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 89 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+6059C>T
c.6996+6059C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897538
chr6:51897580 T
T
 G
G
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+6017A>C
c.6996+6017A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897580
chr6:51897618 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6996+5979A>G
c.6996+5979A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897618
chr6:51897619 C
C
 A
A
 2 a0038c0062t0002g0065
a0041c0088t0006g0114
a0038c0062t0002g0065
a0041c0088t0006g0114
 2 HG02280.hp1
HG03041.hp2
HG02280.hp1
HG03041.hp2
 intron_variant MODIFIER c.6996+5978G>T
c.6996+5978G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897619
chr6:51897686 A
A
 G
G
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6996+5911T>C
c.6996+5911T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897686
chr6:51897775 T
T
 C
C
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.6996+5822A>G
c.6996+5822A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897775
chr6:51897873 G
G
 A
A
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0006c0011t0005g0134
 4 HG02922.hp2
HG02976.hp1
NA19240.hp1
others(1): Show 
HG02922.hp2
HG02976.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.6996+5724C>T
c.6996+5724C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51897873
chr6:51898034 A
A
 C
C
 48 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(45): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 48 HG00738.hp2
HG00741.hp2
HG01106.hp2
others(45): Show 
HG00738.hp2
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+5563T>G
c.6996+5563T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898034
chr6:51898078 C
C
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6996+5519G>A
c.6996+5519G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898078
chr6:51898225 C
C
 A
A
 2 a0001c0061t0001g0064
a0048c0023t0017g0081
a0001c0061t0001g0064
a0048c0023t0017g0081
 2 HG02622.hp1
HG03453.hp1
HG02622.hp1
HG03453.hp1
 intron_variant MODIFIER c.6996+5372G>T
c.6996+5372G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898225
chr6:51898334 C
C
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+5263G>C
c.6996+5263G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898334
chr6:51898359 C
C
 G
G
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+5238G>C
c.6996+5238G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898359
chr6:51898455 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+5142A>G
c.6996+5142A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898455
chr6:51898588 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.6996+5009G>A
c.6996+5009G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898588
chr6:51898602 G
G
 T
T
 49 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(46): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 49 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(46): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+4995C>A
c.6996+4995C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898602
chr6:51898685 G
G
 A
A
 118 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(115): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 118 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(115): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+4912C>T
c.6996+4912C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898685
chr6:51898692 C
C
 A
A
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.6996+4905G>T
c.6996+4905G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898692
chr6:51898751 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6996+4846T>C
c.6996+4846T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898751
chr6:51898781 GA
GA
 G
G
 72 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(69): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 72 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(69): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+4815delT
c.6996+4815delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898781
chr6:51898872 A
A
 G
G
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.6996+4725T>C
c.6996+4725T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51898872
chr6:51899130 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4467G>A
c.6996+4467G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899130
chr6:51899174 G
G
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4423C>A
c.6996+4423C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899174
chr6:51899190 T
T
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4407A>T
c.6996+4407A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899190
chr6:51899195 C
C
 T
T
 18 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(15): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 18 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(15): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+4402G>A
c.6996+4402G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899195
chr6:51899228 C
C
 G
G
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+4369G>C
c.6996+4369G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899228
chr6:51899231 CA
CA
 C
C
 16 a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
others(13): Show 
a0001c0094t0001g0131
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0043c0063t0005g0066
 16 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+4365delT
c.6996+4365delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899231
chr6:51899267 A
A
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6996+4330T>C
c.6996+4330T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899267
chr6:51899283 A
A
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.6996+4314T>G
c.6996+4314T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899283
chr6:51899284 C
C
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+4313G>A
c.6996+4313G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899284
chr6:51899354 G
G
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4243C>A
c.6996+4243C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899354
chr6:51899360 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4237T>C
c.6996+4237T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899360
chr6:51899361 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4236A>G
c.6996+4236A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899361
chr6:51899366 G
G
 A
A
 3 a0025c0072t0001g0095
a0038c0062t0002g0065
a0041c0088t0006g0114
a0025c0072t0001g0095
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG03041.hp2
HG06807.hp2
HG02280.hp1
HG03041.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4231C>T
c.6996+4231C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899366
chr6:51899389 C
C
 A
A
 3 a0001c0009t0001g0106
a0002c0031t0003g0014
a0022c0042t0002g0051
a0001c0009t0001g0106
a0002c0031t0003g0014
a0022c0042t0002g0051
 3 HG01261.hp1
HG03239.hp2
HG04204.hp2
HG01261.hp1
HG03239.hp2
HG04204.hp2
 intron_variant MODIFIER c.6996+4208G>T
c.6996+4208G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899389
chr6:51899451 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+4146A>G
c.6996+4146A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899451
chr6:51899468 C
C
 G
G
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.6996+4129G>C
c.6996+4129G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899468
chr6:51899585 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.6996+4012G>A
c.6996+4012G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899585
chr6:51899588 T
T
 C
C
 9 a0001c0094t0001g0131
a0005c0038t0001g0034
a0008c0018t0020g0074
others(6): Show 
a0001c0094t0001g0131
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0037c0060t0005g0022
a0039c0066t0003g0098
 9 HG02280.hp2
HG02809.hp1
HG02897.hp2
others(6): Show 
HG02280.hp2
HG02809.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03540.hp1
HG06807.hp1
 intron_variant MODIFIER c.6996+4009A>G
c.6996+4009A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899588
chr6:51899673 T
T
 C
C
 2 a0004c0006t0003g0040
a0005c0037t0001g0038
a0004c0006t0003g0040
a0005c0037t0001g0038
 2 HG01106.hp1
HG04228.hp1
HG01106.hp1
HG04228.hp1
 intron_variant MODIFIER c.6996+3924A>G
c.6996+3924A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899673
chr6:51899680 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+3917C>T
c.6996+3917C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899680
chr6:51899715 C
C
 G
G
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
 3 HG02257.hp2
HG02809.hp2
HG03225.hp1
HG02257.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.6996+3882G>C
c.6996+3882G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899715
chr6:51899792 A
A
 T
T
 18 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(15): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 18 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(15): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6996+3805T>A
c.6996+3805T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899792
chr6:51899796 C
C
 G
G
 18 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(15): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 18 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(15): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6996+3801G>C
c.6996+3801G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51899796
chr6:51900183 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+3414A>G
c.6996+3414A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900183
chr6:51900309 G
G
 C
C
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.6996+3288C>G
c.6996+3288C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900309
chr6:51900355 G
G
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+3242C>G
c.6996+3242C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900355
chr6:51900362 C
C
 T
T
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.6996+3235G>A
c.6996+3235G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900362
chr6:51900365 T
T
 C
C
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6996+3232A>G
c.6996+3232A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900365
chr6:51900383 T
T
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+3214A>T
c.6996+3214A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900383
chr6:51900491 A
A
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6996+3106T>G
c.6996+3106T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900491
chr6:51900559 A
A
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6996+3038T>G
c.6996+3038T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900559
chr6:51900663 T
T
 G
G
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.6996+2934A>C
c.6996+2934A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900663
chr6:51900786 A
A
 G
G
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.6996+2811T>C
c.6996+2811T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900786
chr6:51900833 C
C
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+2764G>A
c.6996+2764G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900833
chr6:51900959 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.6996+2638G>A
c.6996+2638G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900959
chr6:51900967 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+2630C>T
c.6996+2630C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51900967
chr6:51901007 G
G
 A
A
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.6996+2590C>T
c.6996+2590C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901007
chr6:51901071 G
G
 C
C
 52 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(49): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 52 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(49): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+2526C>G
c.6996+2526C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901071
chr6:51901371 G
G
 T
T
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.6996+2226C>A
c.6996+2226C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901371
chr6:51901406 AAACTATC
others(5): Show 
AAACTATCGCAAG
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+2179_6996+219
others(16): Show 
c.6996+2179_6996+2190delCTTGCGATAGTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901406
chr6:51901415 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6996+2182G>A
c.6996+2182G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901415
chr6:51901452 A
A
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+2145T>A
c.6996+2145T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901452
chr6:51901511 G
G
 A
A
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6996+2086C>T
c.6996+2086C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901511
chr6:51901531 G
G
 C
C
 2 a0003c0012t0001g0025
a0020c0050t0001g0023
a0003c0012t0001g0025
a0020c0050t0001g0023
 2 HG02683.hp2
HG04204.hp1
HG02683.hp2
HG04204.hp1
 intron_variant MODIFIER c.6996+2066C>G
c.6996+2066C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901531
chr6:51901584 T
T
 A
A
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6996+2013A>T
c.6996+2013A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901584
chr6:51901690 TA
TA
 T
T
 71 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(68): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0048c0023t0017g0081
 71 HG00423.hp1
HG00738.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+1906delT
c.6996+1906delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901690
chr6:51901690 TAA
TAA
 T
T
 20 a0001c0001t0001g0060
a0001c0094t0001g0131
a0002c0079t0007g0089
others(17): Show 
a0001c0001t0001g0060
a0001c0094t0001g0131
a0002c0079t0007g0089
a0004c0014t0004g0033
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0039c0066t0003g0098
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 20 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(17): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02015.hp1
HG02280.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.6996+1905_6996+190
others(6): Show 
c.6996+1905_6996+1906delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901690
chr6:51901753 A
A
 T
T
 52 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(49): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
 52 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(49): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6996+1844T>A
c.6996+1844T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901753
chr6:51901798 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+1799A>G
c.6996+1799A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901798
chr6:51901833 T
T
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6996+1764A>C
c.6996+1764A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901833
chr6:51901871 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+1726C>T
c.6996+1726C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51901871
chr6:51902083 G
G
 A
A
 1 a0003c0048t0001g0047
a0003c0048t0001g0047
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.6996+1514C>T
c.6996+1514C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51902083
chr6:51902230 G
G
 A
A
 2 a0001c0061t0001g0064
a0048c0023t0017g0081
a0001c0061t0001g0064
a0048c0023t0017g0081
 2 HG02622.hp1
HG03453.hp1
HG02622.hp1
HG03453.hp1
 intron_variant MODIFIER c.6996+1367C>T
c.6996+1367C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51902230
chr6:51902781 T
T
 C
C
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.6996+816A>G
c.6996+816A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51902781
chr6:51903172 G
G
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6996+425C>A
c.6996+425C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51903172
chr6:51903219 A
A
 C
C
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.6996+378T>G
c.6996+378T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51903219
chr6:51903305 C
C
 G
G
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.6996+292G>C
c.6996+292G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 43/66 chr6 51903305
chr6:51903824 A
A
 C
C
 3 a0001c0094t0001g0131
a0011c0017t0005g0080
a0037c0060t0005g0022
a0001c0094t0001g0131
a0011c0017t0005g0080
a0037c0060t0005g0022
 3 HG02809.hp1
HG02922.hp1
HG03540.hp1
HG02809.hp1
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.6866-97T>G
c.6866-97T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903824
chr6:51903832 C
C
 CAT
CAT
 3 a0005c0037t0001g0038
a0006c0011t0005g0134
a0009c0054t0001g0082
a0005c0037t0001g0038
a0006c0011t0005g0134
a0009c0054t0001g0082
 3 HG01106.hp1
HG02976.hp2
NA19240.hp1
HG01106.hp1
HG02976.hp2
NA19240.hp1
 intron_variant MODIFIER c.6866-107_6866-106d
others(4): Show 
c.6866-107_6866-106dupAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATAT
CATAT
 2 a0006c0078t0005g0104
a0007c0003t0001g0011
a0006c0078t0005g0104
a0007c0003t0001g0011
 2 HG02451.hp2
NA18989.hp1
HG02451.hp2
NA18989.hp1
 intron_variant MODIFIER c.6866-109_6866-106d
others(6): Show 
c.6866-109_6866-106dupATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(1): Show 
CATATATAT
 4 a0001c0001t0001g0058
a0001c0001t0001g0062
a0027c0069t0018g0092
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0027c0069t0018g0092
a0039c0066t0003g0098
 4 HG02257.hp2
HG02897.hp2
HG03225.hp1
others(1): Show 
HG02257.hp2
HG02897.hp2
HG03225.hp1
HG06807.hp1
 intron_variant MODIFIER c.6866-113_6866-106d
others(10): Show 
c.6866-113_6866-106dupATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(3): Show 
CATATATATAT
 3 a0005c0038t0001g0034
a0042c0035t0006g0059
a0045c0084t0006g0087
a0005c0038t0001g0034
a0042c0035t0006g0059
a0045c0084t0006g0087
 3 HG02970.hp1
HG03041.hp1
HG03098.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
 intron_variant MODIFIER c.6866-115_6866-106d
others(12): Show 
c.6866-115_6866-106dupATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.6866-117_6866-106d
others(14): Show 
c.6866-117_6866-106dupATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(7): Show 
CATATATATATATAT
 2 a0002c0079t0007g0089
a0038c0062t0002g0065
a0002c0079t0007g0089
a0038c0062t0002g0065
 2 HG01255.hp1
HG03041.hp2
HG01255.hp1
HG03041.hp2
 intron_variant MODIFIER c.6866-119_6866-106d
others(16): Show 
c.6866-119_6866-106dupATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(9): Show 
CATATATATATATATAT
 2 a0009c0056t0001g0073
a0011c0017t0005g0071
a0009c0056t0001g0073
a0011c0017t0005g0071
 2 HG02280.hp2
HG03486.hp1
HG02280.hp2
HG03486.hp1
 intron_variant MODIFIER c.6866-121_6866-106d
others(18): Show 
c.6866-121_6866-106dupATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(11): Show 
CATATATATATATATATAT
 3 a0005c0039t0001g0030
a0008c0018t0020g0074
a0011c0017t0005g0080
a0005c0039t0001g0030
a0008c0018t0020g0074
a0011c0017t0005g0080
 3 HG02818.hp2
HG03098.hp1
HG03540.hp1
HG02818.hp2
HG03098.hp1
HG03540.hp1
 intron_variant MODIFIER c.6866-123_6866-106d
others(20): Show 
c.6866-123_6866-106dupATATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(13): Show 
CATATATATATATATATATAT
 2 a0001c0094t0001g0131
a0006c0011t0005g0063
a0001c0094t0001g0131
a0006c0011t0005g0063
 2 HG02809.hp1
HG02809.hp2
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.6866-125_6866-106d
others(22): Show 
c.6866-125_6866-106dupATATATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 C
C
 CATATATA
others(17): Show 
CATATATATATATATATATATATAT
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.6866-129_6866-106d
others(26): Show 
c.6866-129_6866-106dupATATATATATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 CAT
CAT
 C
C
 8 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0026c0073t0005g0094
 8 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(5): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02486.hp2
HG02717.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6866-107_6866-106d
others(4): Show 
c.6866-107_6866-106delAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 CATAT
CATAT
 C
C
 14 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
others(11): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0006c0076t0005g0088
a0018c0052t0006g0086
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0048c0023t0017g0081
 14 HG00423.hp1
HG00741.hp1
HG01175.hp1
others(11): Show 
HG00423.hp1
HG00741.hp1
HG01175.hp1
HG01952.hp2
HG02451.hp1
HG02486.hp1
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03139.hp1
HG03453.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6866-109_6866-106d
others(6): Show 
c.6866-109_6866-106delATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903832 CATATAT
CATATAT
 C
C
 48 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(45): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
 48 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(45): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6866-111_6866-106d
others(8): Show 
c.6866-111_6866-106delATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903832
chr6:51903861 T
T
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6865+125A>T
c.6865+125A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 42/66 chr6 51903861
chr6:51904278 G
G
 A
A
 1 a0029c0070t0008g0090
a0029c0070t0008g0090
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.6809-236C>T
c.6809-236C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51904278
chr6:51904447 C
C
 T
T
 65 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(62): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 65 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6809-405G>A
c.6809-405G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51904447
chr6:51904488 A
A
 T
T
 67 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(64): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 67 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(64): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6809-446T>A
c.6809-446T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51904488
chr6:51904703 T
T
 G
G
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6809-661A>C
c.6809-661A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51904703
chr6:51904821 A
A
 G
G
 67 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(64): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 67 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(64): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02809.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6809-779T>C
c.6809-779T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51904821
chr6:51905030 C
C
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6809-988G>T
c.6809-988G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905030
chr6:51905046 A
A
 G
G
 2 a0004c0008t0004g0045
a0040c0081t0001g0124
a0004c0008t0004g0045
a0040c0081t0001g0124
 2 NA18971.hp1
NA19001.hp2
NA18971.hp1
NA19001.hp2
 intron_variant MODIFIER c.6809-1004T>C
c.6809-1004T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905046
chr6:51905180 C
C
 T
T
 75 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
others(72): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 75 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(72): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6808+1035G>A
c.6808+1035G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905180
chr6:51905205 G
G
 A
A
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6808+1010C>T
c.6808+1010C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905205
chr6:51905298 A
A
 G
G
 3 a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0058
a0001c0001t0001g0062
a0006c0011t0005g0063
 3 HG02257.hp2
HG02809.hp2
HG03225.hp1
HG02257.hp2
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.6808+917T>C
c.6808+917T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905298
chr6:51905331 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6808+884C>T
c.6808+884C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905331
chr6:51905835 T
T
 A
A
 2 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0058
a0001c0001t0001g0062
 2 HG02257.hp2
HG03225.hp1
HG02257.hp2
HG03225.hp1
 intron_variant MODIFIER c.6808+380A>T
c.6808+380A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905835
chr6:51905843 A
A
 T
T
 1 a0010c0026t0001g0013
a0010c0026t0001g0013
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.6808+372T>A
c.6808+372T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905843
chr6:51905872 C
C
 A
A
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0012c0029t0002g0010
a0001c0032t0001g0075
a0002c0005t0004g0076
a0012c0029t0002g0010
 3 HG04184.hp1
HG04228.hp2
NA20752.hp1
HG04184.hp1
HG04228.hp2
NA20752.hp1
 intron_variant MODIFIER c.6808+343G>T
c.6808+343G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51905872
chr6:51906090 C
C
 T
T
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.6808+125G>A
c.6808+125G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 41/66 chr6 51906090
chr6:51906590 T
T
 C
C
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.6683-250A>G
c.6683-250A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51906590
chr6:51906631 A
A
 T
T
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.6683-291T>A
c.6683-291T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51906631
chr6:51906780 C
C
 A
A
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6683-440G>T
c.6683-440G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51906780
chr6:51906881 A
A
 G
G
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.6683-541T>C
c.6683-541T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51906881
chr6:51906960 C
C
 A
A
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.6683-620G>T
c.6683-620G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51906960
chr6:51906982 C
C
 T
T
 49 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(46): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 49 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(46): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6683-642G>A
c.6683-642G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51906982
chr6:51906983 G
G
 A
A
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0045c0084t0006g0087
a0048c0023t0017g0081
 16 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(13): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02965.hp1
HG03041.hp1
HG03139.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6683-643C>T
c.6683-643C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51906983
chr6:51907087 G
G
 C
C
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.6683-747C>G
c.6683-747C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51907087
chr6:51907304 A
A
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6683-964T>G
c.6683-964T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51907304
chr6:51907420 C
C
 G
G
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.6683-1080G>C
c.6683-1080G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51907420
chr6:51907511 A
A
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6683-1171T>G
c.6683-1171T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51907511
chr6:51907611 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6683-1271T>C
c.6683-1271T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51907611
chr6:51907681 T
T
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6683-1341A>C
c.6683-1341A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51907681
chr6:51908127 A
A
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6682+1156T>G
c.6682+1156T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51908127
chr6:51908211 T
T
 A
A
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.6682+1072A>T
c.6682+1072A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51908211
chr6:51908550 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6682+733C>T
c.6682+733C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51908550
chr6:51908590 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6682+693G>A
c.6682+693G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51908590
chr6:51908790 C
C
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6682+493G>A
c.6682+493G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51908790
chr6:51909023 T
T
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6682+260A>G
c.6682+260A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51909023
chr6:51909200 T
T
 C
C
 1 a0002c0033t0002g0017
a0002c0033t0002g0017
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.6682+83A>G
c.6682+83A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 40/66 chr6 51909200
chr6:51909580 T
T
 A
A
 25 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(22): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
a0048c0023t0017g0081
 25 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(22): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6491-106A>T
c.6491-106A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51909580
chr6:51909871 A
A
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6491-397T>C
c.6491-397T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51909871
chr6:51910211 C
C
 A
A
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.6491-737G>T
c.6491-737G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910211
chr6:51910234 G
G
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6491-760C>T
c.6491-760C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910234
chr6:51910273 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6491-799A>G
c.6491-799A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910273
chr6:51910468 G
G
 A
A
 3 a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp2
HG03041.hp2
HG02280.hp1
HG02818.hp2
HG03041.hp2
 intron_variant MODIFIER c.6491-994C>T
c.6491-994C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910468
chr6:51910649 G
G
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.6490+1150C>T
c.6490+1150C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910649
chr6:51910739 G
G
 GTTATCAA
others(2): Show 
GTTATCAACT
 2 a0027c0069t0018g0092
a0039c0066t0003g0098
a0027c0069t0018g0092
a0039c0066t0003g0098
 2 HG02897.hp2
HG06807.hp1
HG02897.hp2
HG06807.hp1
 intron_variant MODIFIER c.6490+1059_6490+106
others(13): Show 
c.6490+1059_6490+1060insAGTTGATAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910739
chr6:51910740 A
A
 T
T
 2 a0027c0069t0018g0092
a0039c0066t0003g0098
a0027c0069t0018g0092
a0039c0066t0003g0098
 2 HG02897.hp2
HG06807.hp1
HG02897.hp2
HG06807.hp1
 intron_variant MODIFIER c.6490+1059T>A
c.6490+1059T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910740
chr6:51910743 A
A
 T
T
 2 a0027c0069t0018g0092
a0039c0066t0003g0098
a0027c0069t0018g0092
a0039c0066t0003g0098
 2 HG02897.hp2
HG06807.hp1
HG02897.hp2
HG06807.hp1
 intron_variant MODIFIER c.6490+1056T>A
c.6490+1056T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910743
chr6:51910810 G
G
 A
A
 1 a0004c0006t0002g0055
a0004c0006t0002g0055
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.6490+989C>T
c.6490+989C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910810
chr6:51910884 C
C
 T
T
 3 a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp2
HG03041.hp2
HG02280.hp1
HG02818.hp2
HG03041.hp2
 intron_variant MODIFIER c.6490+915G>A
c.6490+915G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910884
chr6:51910925 A
A
 AC
AC
 6 a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
others(3): Show 
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0027c0069t0018g0092
a0039c0066t0003g0098
 6 HG02280.hp2
HG02897.hp2
HG03098.hp1
others(3): Show 
HG02280.hp2
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG06807.hp1
 intron_variant MODIFIER c.6490+873dupG
c.6490+873dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51910925
chr6:51911012 G
G
 C
C
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.6490+787C>G
c.6490+787C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51911012
chr6:51911276 C
C
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6490+523G>A
c.6490+523G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51911276
chr6:51911403 A
A
 G
G
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.6490+396T>C
c.6490+396T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51911403
chr6:51911737 T
T
 C
C
 16 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(13): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 16 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(13): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.6490+62A>G
c.6490+62A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 39/66 chr6 51911737
chr6:51911962 GAA
GAA
 G
G
 3 a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp2
HG03041.hp2
HG02280.hp1
HG02818.hp2
HG03041.hp2
 splice_region_variant&intron_variant LOW c.6333-8_6333-7delTT
c.6333-8_6333-7delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 38/66 chr6 51911962
chr6:51912304 C
C
 A
A
 2 a0009c0056t0001g0073
a0011c0017t0005g0071
a0009c0056t0001g0073
a0011c0017t0005g0071
 2 HG02280.hp2
HG03486.hp1
HG02280.hp2
HG03486.hp1
 intron_variant MODIFIER c.6332+62G>T
c.6332+62G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 38/66 chr6 51912304
chr6:51913124 T
T
 A
A
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6122-548A>T
c.6122-548A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51913124
chr6:51913175 C
C
 T
T
 3 a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
 3 HG02280.hp2
HG03098.hp1
HG03486.hp1
HG02280.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.6122-599G>A
c.6122-599G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51913175
chr6:51913278 A
A
 G
G
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.6122-702T>C
c.6122-702T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51913278
chr6:51913616 C
C
 A
A
 7 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(4): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 7 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(4): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6122-1040G>T
c.6122-1040G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51913616
chr6:51913949 T
T
 C
C
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.6122-1373A>G
c.6122-1373A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51913949
chr6:51914043 G
G
 C
C
 1 a0003c0015t0001g0039
a0003c0015t0001g0039
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-1467C>G
c.6122-1467C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51914043
chr6:51914249 A
A
 G
G
 1 a0032c0058t0001g0070
a0032c0058t0001g0070
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.6122-1673T>C
c.6122-1673T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51914249
chr6:51914406 T
T
 C
C
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6122-1830A>G
c.6122-1830A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51914406
chr6:51914407 G
G
 C
C
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6122-1831C>G
c.6122-1831C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51914407
chr6:51914475 G
G
 A
A
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.6122-1899C>T
c.6122-1899C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51914475
chr6:51914840 A
A
 G
G
 89 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(86): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 89 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(86): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-2264T>C
c.6122-2264T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51914840
chr6:51914862 A
A
 G
G
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.6122-2286T>C
c.6122-2286T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51914862
chr6:51915293 G
G
 C
C
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.6122-2717C>G
c.6122-2717C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51915293
chr6:51915460 C
C
 T
T
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.6122-2884G>A
c.6122-2884G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51915460
chr6:51915514 C
C
 G
G
 65 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(62): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 65 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-2938G>C
c.6122-2938G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51915514
chr6:51915515 A
A
 G
G
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-2939T>C
c.6122-2939T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51915515
chr6:51915655 C
C
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.6122-3079G>T
c.6122-3079G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51915655
chr6:51916172 G
G
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.6122-3596C>T
c.6122-3596C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916172
chr6:51916384 G
G
 A
A
 3 a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp2
HG03041.hp2
HG02280.hp1
HG02818.hp2
HG03041.hp2
 intron_variant MODIFIER c.6122-3808C>T
c.6122-3808C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916384
chr6:51916416 T
T
 C
C
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.6122-3840A>G
c.6122-3840A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916416
chr6:51916417 G
G
 T
T
 7 a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
others(4): Show 
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0025c0072t0001g0095
a0027c0069t0018g0092
a0039c0066t0003g0098
 7 HG02280.hp2
HG02897.hp2
HG03098.hp1
others(4): Show 
HG02280.hp2
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.6122-3841C>A
c.6122-3841C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916417
chr6:51916513 G
G
 A
A
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.6122-3937C>T
c.6122-3937C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916513
chr6:51916630 T
T
 G
G
 7 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(4): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 7 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(4): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6122-4054A>C
c.6122-4054A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916630
chr6:51916722 A
A
 C
C
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6122-4146T>G
c.6122-4146T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916722
chr6:51916782 C
C
 T
T
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-4206G>A
c.6122-4206G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916782
chr6:51916840 T
T
 G
G
 65 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(62): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 65 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-4264A>C
c.6122-4264A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916840
chr6:51916979 T
T
 G
G
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.6122-4403A>C
c.6122-4403A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51916979
chr6:51917159 G
G
 A
A
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.6122-4583C>T
c.6122-4583C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917159
chr6:51917159 G
G
 C
C
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.6122-4583C>G
c.6122-4583C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917159
chr6:51917162 G
G
 A
A
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.6122-4586C>T
c.6122-4586C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917162
chr6:51917195 G
G
 GGA
GGA
 59 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(56): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 59 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(56): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-4621_6122-462
others(6): Show 
c.6122-4621_6122-4620dupTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917195
chr6:51917310 T
T
 C
C
 57 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(54): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
 57 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(54): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-4734A>G
c.6122-4734A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917310
chr6:51917427 G
G
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6122-4851C>A
c.6122-4851C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917427
chr6:51917503 G
G
 A
A
 63 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(60): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 63 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(60): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-4927C>T
c.6122-4927C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917503
chr6:51917542 A
A
 G
G
 3 a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp2
HG03041.hp2
HG02280.hp1
HG02818.hp2
HG03041.hp2
 intron_variant MODIFIER c.6122-4966T>C
c.6122-4966T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917542
chr6:51917595 C
C
 A
A
 3 a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
a0005c0039t0001g0030
a0038c0062t0002g0065
a0041c0088t0006g0114
 3 HG02280.hp1
HG02818.hp2
HG03041.hp2
HG02280.hp1
HG02818.hp2
HG03041.hp2
 intron_variant MODIFIER c.6122-5019G>T
c.6122-5019G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917595
chr6:51917618 A
A
 G
G
 107 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(104): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 107 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(104): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-5042T>C
c.6122-5042T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51917618
chr6:51918049 T
T
 C
C
 3 a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0020t0008g0110
a0001c0082t0001g0105
a0002c0005t0002g0021
a0002c0020t0008g0110
 3 HG02970.hp2
HG03471.hp1
HG03486.hp2
HG02970.hp2
HG03471.hp1
HG03486.hp2
 intron_variant MODIFIER c.6122-5473A>G
c.6122-5473A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918049
chr6:51918178 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6122-5602A>G
c.6122-5602A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918178
chr6:51918182 C
C
 CAT
CAT
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-5608_6122-560
others(6): Show 
c.6122-5608_6122-5607dupAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918182
chr6:51918240 G
G
 C
C
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-5664C>G
c.6122-5664C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918240
chr6:51918292 G
G
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.6122-5716C>T
c.6122-5716C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918292
chr6:51918353 C
C
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6122-5777G>A
c.6122-5777G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918353
chr6:51918480 T
T
 C
C
 16 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(13): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 16 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(13): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.6122-5904A>G
c.6122-5904A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918480
chr6:51918527 T
T
 A
A
 1 a0007c0003t0001g0012
a0007c0003t0001g0012
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.6122-5951A>T
c.6122-5951A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918527
chr6:51918917 C
C
 T
T
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 15 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(12): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02965.hp1
HG03139.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6122-6341G>A
c.6122-6341G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51918917
chr6:51919075 G
G
 A
A
 4 a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
others(1): Show 
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
 4 HG01074.hp2
HG01433.hp1
HG02257.hp1
others(1): Show 
HG01074.hp2
HG01433.hp1
HG02257.hp1
HG02486.hp2
 intron_variant MODIFIER c.6122-6499C>T
c.6122-6499C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919075
chr6:51919182 T
T
 C
C
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.6122-6606A>G
c.6122-6606A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919182
chr6:51919212 G
G
 A
A
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.6122-6636C>T
c.6122-6636C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919212
chr6:51919530 T
T
 A
A
 63 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(60): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 63 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(60): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-6954A>T
c.6122-6954A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919530
chr6:51919543 C
C
 A
A
 117 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(114): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 117 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(114): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-6967G>T
c.6122-6967G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919543
chr6:51919552 T
T
 C
C
 49 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(46): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 49 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(46): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-6976A>G
c.6122-6976A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919552
chr6:51919615 C
C
 G
G
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-7039G>C
c.6122-7039G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919615
chr6:51919629 C
C
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6122-7053G>A
c.6122-7053G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919629
chr6:51919803 C
C
 A
A
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.6122-7227G>T
c.6122-7227G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919803
chr6:51919967 C
C
 T
T
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.6122-7391G>A
c.6122-7391G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51919967
chr6:51920069 C
C
 G
G
 16 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(13): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 16 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(13): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.6122-7493G>C
c.6122-7493G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920069
chr6:51920171 G
G
 C
C
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.6122-7595C>G
c.6122-7595C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920171
chr6:51920173 C
C
 A
A
 2 a0001c0061t0001g0064
a0048c0023t0017g0081
a0001c0061t0001g0064
a0048c0023t0017g0081
 2 HG02622.hp1
HG03453.hp1
HG02622.hp1
HG03453.hp1
 intron_variant MODIFIER c.6122-7597G>T
c.6122-7597G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920173
chr6:51920269 T
T
 C
C
 3 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
 3 HG02922.hp2
HG02976.hp1
NA19240.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp2
 intron_variant MODIFIER c.6122-7693A>G
c.6122-7693A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920269
chr6:51920301 G
G
 A
A
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.6122-7725C>T
c.6122-7725C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920301
chr6:51920303 C
C
 T
T
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6122-7727G>A
c.6122-7727G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920303
chr6:51920354 G
G
 A
A
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.6122-7778C>T
c.6122-7778C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920354
chr6:51920403 G
G
 A
A
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6122-7827C>T
c.6122-7827C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920403
chr6:51920772 A
A
 G
G
 90 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 90 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-8196T>C
c.6122-8196T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51920772
chr6:51921021 C
C
 T
T
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-8445G>A
c.6122-8445G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921021
chr6:51921102 T
T
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.6122-8526A>T
c.6122-8526A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921102
chr6:51921131 C
C
 G
G
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-8555G>C
c.6122-8555G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921131
chr6:51921223 G
G
 A
A
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-8647C>T
c.6122-8647C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921223
chr6:51921342 C
C
 T
T
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.6122-8766G>A
c.6122-8766G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921342
chr6:51921445 C
C
 T
T
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.6122-8869G>A
c.6122-8869G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921445
chr6:51921461 T
T
 C
C
 2 a0001c0061t0001g0064
a0048c0023t0017g0081
a0001c0061t0001g0064
a0048c0023t0017g0081
 2 HG02622.hp1
HG03453.hp1
HG02622.hp1
HG03453.hp1
 intron_variant MODIFIER c.6122-8885A>G
c.6122-8885A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921461
chr6:51921547 G
G
 A
A
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6122-8971C>T
c.6122-8971C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921547
chr6:51921618 G
G
 A
A
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-9042C>T
c.6122-9042C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921618
chr6:51921911 C
C
 A
A
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.6122-9335G>T
c.6122-9335G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921911
chr6:51921920 C
C
 T
T
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.6122-9344G>A
c.6122-9344G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921920
chr6:51921928 T
T
 C
C
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.6122-9352A>G
c.6122-9352A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51921928
chr6:51922211 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6122-9635G>A
c.6122-9635G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51922211
chr6:51922237 G
G
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6122-9661C>A
c.6122-9661C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51922237
chr6:51922630 A
A
 C
C
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.6122-10054T>G
c.6122-10054T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51922630
chr6:51922642 G
G
 C
C
 16 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(13): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 16 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(13): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.6122-10066C>G
c.6122-10066C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51922642
chr6:51922743 G
G
 A
A
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.6122-10167C>T
c.6122-10167C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51922743
chr6:51922883 C
C
 A
A
 63 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(60): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 63 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(60): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6122-10307G>T
c.6122-10307G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51922883
chr6:51922923 C
C
 T
T
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6122-10347G>A
c.6122-10347G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51922923
chr6:51923044 C
C
 A
A
 7 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(4): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
 7 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(4): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6122-10468G>T
c.6122-10468G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923044
chr6:51923075 C
C
 T
T
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.6122-10499G>A
c.6122-10499G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923075
chr6:51923195 C
C
 T
T
 9 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(6): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0005c0039t0001g0030
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
a0038c0062t0002g0065
a0041c0088t0006g0114
 9 HG02257.hp2
HG02280.hp1
HG02809.hp1
others(6): Show 
HG02257.hp2
HG02280.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.6122-10619G>A
c.6122-10619G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923195
chr6:51923528 A
A
 C
C
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
a0045c0084t0006g0087
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+10582T>G
c.6121+10582T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923528
chr6:51923531 C
C
 T
T
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6121+10579G>A
c.6121+10579G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923531
chr6:51923708 C
C
 T
T
 1 a0002c0021t0004g0130
a0002c0021t0004g0130
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.6121+10402G>A
c.6121+10402G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923708
chr6:51923765 C
C
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6121+10345G>T
c.6121+10345G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923765
chr6:51923768 T
T
 C
C
 2 a0028c0071t0012g0093
a0031c0057t0013g0067
a0028c0071t0012g0093
a0031c0057t0013g0067
 2 HG00741.hp1
HG02896.hp1
HG00741.hp1
HG02896.hp1
 intron_variant MODIFIER c.6121+10342A>G
c.6121+10342A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51923768
chr6:51924114 C
C
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6121+9996G>A
c.6121+9996G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924114
chr6:51924440 G
G
 A
A
 10 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(7): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0030c0055t0002g0072
a0034c0085t0004g0096
a0035c0086t0001g0109
 10 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(7): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
HG02818.hp1
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6121+9670C>T
c.6121+9670C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924440
chr6:51924461 G
G
 A
A
 58 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(55): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 58 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(55): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+9649C>T
c.6121+9649C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924461
chr6:51924580 G
G
 A
A
 61 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(58): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 61 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(58): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+9530C>T
c.6121+9530C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924580
chr6:51924607 C
C
 T
T
 3 a0005c0039t0001g0030
a0041c0088t0006g0114
a0045c0084t0006g0087
a0005c0039t0001g0030
a0041c0088t0006g0114
a0045c0084t0006g0087
 3 HG02280.hp1
HG02818.hp2
HG03041.hp1
HG02280.hp1
HG02818.hp2
HG03041.hp1
 intron_variant MODIFIER c.6121+9503G>A
c.6121+9503G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924607
chr6:51924791 G
G
 A
A
 65 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(62): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 65 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+9319C>T
c.6121+9319C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924791
chr6:51924835 CCAAAT
CCAAAT
 C
C
 6 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
 6 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(3): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.6121+9270_6121+927
others(9): Show 
c.6121+9270_6121+9274delATTTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924835
chr6:51924989 G
G
 A
A
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+9121C>T
c.6121+9121C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924989
chr6:51924999 T
T
 A
A
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.6121+9111A>T
c.6121+9111A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51924999
chr6:51925049 C
C
 T
T
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6121+9061G>A
c.6121+9061G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925049
chr6:51925292 T
T
 C
C
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.6121+8818A>G
c.6121+8818A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925292
chr6:51925438 C
C
 CGTGT
CGTGT
 6 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
others(3): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0006c0011t0005g0134
a0020c0050t0001g0023
a0046c0067t0003g0112
 6 HG01074.hp1
HG02683.hp2
HG02922.hp2
others(3): Show 
HG01074.hp1
HG02683.hp2
HG02922.hp2
HG02976.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.6121+8668_6121+867
others(8): Show 
c.6121+8668_6121+8671dupACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925438
chr6:51925455 A
A
 ATG
ATG
 10 a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
others(7): Show 
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
 10 HG00738.hp1
HG01071.hp2
HG01106.hp1
others(7): Show 
HG00738.hp1
HG01071.hp2
HG01106.hp1
HG02015.hp2
HG02155.hp1
HG02698.hp2
HG03704.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.6121+8653_6121+865
others(6): Show 
c.6121+8653_6121+8654dupCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925455
chr6:51925455 A
A
 G
G
 101 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(98): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0048c0023t0017g0081
 101 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(98): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+8655T>C
c.6121+8655T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925455
chr6:51925457 G
G
 GTA
GTA
 12 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(9): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0018c0052t0006g0086
a0037c0060t0005g0022
a0048c0023t0017g0081
 12 HG02257.hp2
HG02451.hp1
HG02622.hp1
others(9): Show 
HG02257.hp2
HG02451.hp1
HG02622.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.6121+8652_6121+865
others(6): Show 
c.6121+8652_6121+8653insTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925457
chr6:51925457 G
G
 GTGTA
GTGTA
 54 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(51): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0036c0074t0003g0108
a0040c0081t0001g0124
 54 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(51): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+8652_6121+865
others(8): Show 
c.6121+8652_6121+8653insTACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925457
chr6:51925457 G
G
 GTGTGTA
GTGTGTA
 4 a0005c0038t0001g0034
a0005c0039t0001g0030
a0012c0029t0002g0010
others(1): Show 
a0005c0038t0001g0034
a0005c0039t0001g0030
a0012c0029t0002g0010
a0038c0062t0002g0065
 4 HG02818.hp2
HG03041.hp2
HG03098.hp2
others(1): Show 
HG02818.hp2
HG03041.hp2
HG03098.hp2
NA20752.hp1
 intron_variant MODIFIER c.6121+8652_6121+865
others(10): Show 
c.6121+8652_6121+8653insTACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925457
chr6:51925457 G
G
 GTGTGTGT
others(1): Show 
GTGTGTGTA
 2 a0004c0006t0002g0055
a0041c0088t0006g0114
a0004c0006t0002g0055
a0041c0088t0006g0114
 2 HG02280.hp1
HG03516.hp2
HG02280.hp1
HG03516.hp2
 intron_variant MODIFIER c.6121+8652_6121+865
others(12): Show 
c.6121+8652_6121+8653insTACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925457
chr6:51925459 G
G
 A
A
 22 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0019t0001g0118
others(19): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0093t0001g0127
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0019c0049t0001g0035
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0042c0035t0006g0059
a0044c0075t0001g0119
 22 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(19): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp1
HG02970.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.6121+8651C>T
c.6121+8651C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925459
chr6:51925459 G
G
 GTGTGTA
GTGTGTA
 4 a0028c0071t0012g0093
a0031c0057t0013g0067
a0033c0059t0008g0001
others(1): Show 
a0028c0071t0012g0093
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 4 HG00741.hp1
HG02896.hp1
HG03471.hp2
others(1): Show 
HG00741.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.6121+8650_6121+865
others(10): Show 
c.6121+8650_6121+8651insTACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925459
chr6:51925459 G
G
 GTGTGTGT
others(5): Show 
GTGTGTGTGTGTA
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.6121+8650_6121+865
others(16): Show 
c.6121+8650_6121+8651insTACACACACACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925459
chr6:51925699 T
T
 A
A
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.6121+8411A>T
c.6121+8411A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925699
chr6:51925755 T
T
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6121+8355A>T
c.6121+8355A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925755
chr6:51925795 T
T
 G
G
 50 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(47): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 50 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(47): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+8315A>C
c.6121+8315A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925795
chr6:51925822 T
T
 C
C
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.6121+8288A>G
c.6121+8288A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925822
chr6:51925863 G
G
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.6121+8247C>A
c.6121+8247C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925863
chr6:51925973 T
T
 TA
TA
 49 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0117
others(46): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 49 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(46): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+8136dupT
c.6121+8136dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925973
chr6:51925973 TA
TA
 T
T
 7 a0002c0079t0007g0089
a0028c0071t0012g0093
a0029c0070t0008g0090
others(4): Show 
a0002c0079t0007g0089
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 7 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(4): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6121+8136delT
c.6121+8136delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51925973
chr6:51926209 T
T
 G
G
 2 a0005c0039t0001g0030
a0041c0088t0006g0114
a0005c0039t0001g0030
a0041c0088t0006g0114
 2 HG02280.hp1
HG02818.hp2
HG02280.hp1
HG02818.hp2
 intron_variant MODIFIER c.6121+7901A>C
c.6121+7901A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51926209
chr6:51926293 G
G
 T
T
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+7817C>A
c.6121+7817C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51926293
chr6:51926640 A
A
 G
G
 1 a0030c0055t0002g0072
a0030c0055t0002g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.6121+7470T>C
c.6121+7470T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51926640
chr6:51927028 C
C
 G
G
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.6121+7082G>C
c.6121+7082G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51927028
chr6:51927094 T
T
 A
A
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.6121+7016A>T
c.6121+7016A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51927094
chr6:51927211 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.6121+6899G>A
c.6121+6899G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51927211
chr6:51927241 G
G
 T
T
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.6121+6869C>A
c.6121+6869C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51927241
chr6:51927394 A
A
 G
G
 2 a0001c0002t0001g0083
a0002c0020t0003g0084
a0001c0002t0001g0083
a0002c0020t0003g0084
 2 NA18975.hp1
NA18989.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.6121+6716T>C
c.6121+6716T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51927394
chr6:51927839 C
C
 A
A
 65 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(62): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 65 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+6271G>T
c.6121+6271G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51927839
chr6:51928078 C
C
 T
T
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.6121+6032G>A
c.6121+6032G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928078
chr6:51928215 A
A
 G
G
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.6121+5895T>C
c.6121+5895T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928215
chr6:51928241 A
A
 T
T
 2 a0026c0073t0005g0094
a0042c0035t0006g0059
a0026c0073t0005g0094
a0042c0035t0006g0059
 2 HG02717.hp1
HG02970.hp1
HG02717.hp1
HG02970.hp1
 intron_variant MODIFIER c.6121+5869T>A
c.6121+5869T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928241
chr6:51928328 T
T
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6121+5782A>T
c.6121+5782A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928328
chr6:51928377 AGTCAGAC
others(8): Show 
AGTCAGACTTCTGTCT
 A
A
 4 a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
others(1): Show 
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
 4 HG01074.hp2
HG01433.hp1
HG02257.hp1
others(1): Show 
HG01074.hp2
HG01433.hp1
HG02257.hp1
HG02486.hp2
 intron_variant MODIFIER c.6121+5718_6121+573
others(19): Show 
c.6121+5718_6121+5732delAGACAGAAGTCTGAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928377
chr6:51928627 C
C
 CA
CA
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+5482_6121+548
others(5): Show 
c.6121+5482_6121+5483insT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928627
chr6:51928660 G
G
 GA
GA
 6 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(3): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.6121+5449dupT
c.6121+5449dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928660
chr6:51928662 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.6121+5448T>C
c.6121+5448T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928662
chr6:51928830 G
G
 T
T
 6 a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
others(3): Show 
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0025c0072t0001g0095
a0039c0066t0003g0098
 6 HG02280.hp2
HG03098.hp1
HG03098.hp2
others(3): Show 
HG02280.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.6121+5280C>A
c.6121+5280C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928830
chr6:51928882 G
G
 A
A
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.6121+5228C>T
c.6121+5228C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928882
chr6:51928913 T
T
 G
G
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.6121+5197A>C
c.6121+5197A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51928913
chr6:51929149 T
T
 C
C
 21 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(18): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0048c0023t0017g0081
 21 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(18): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.6121+4961A>G
c.6121+4961A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51929149
chr6:51929515 G
G
 GT
GT
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+4594_6121+459
others(5): Show 
c.6121+4594_6121+4595insA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51929515
chr6:51929656 T
T
 C
C
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+4454A>G
c.6121+4454A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51929656
chr6:51929666 G
G
 A
A
 65 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(62): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 65 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+4444C>T
c.6121+4444C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51929666
chr6:51930207 A
A
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6121+3903T>C
c.6121+3903T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51930207
chr6:51930347 T
T
 TCAAA
TCAAA
 91 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(88): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0048t0001g0047
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0048c0023t0017g0081
 91 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(88): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+3759_6121+376
others(8): Show 
c.6121+3759_6121+3762dupTTTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51930347
chr6:51930649 C
C
 T
T
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.6121+3461G>A
c.6121+3461G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51930649
chr6:51930966 T
T
 G
G
 3 a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
a0008c0018t0020g0074
a0009c0056t0001g0073
a0011c0017t0005g0071
 3 HG02280.hp2
HG03098.hp1
HG03486.hp1
HG02280.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.6121+3144A>C
c.6121+3144A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51930966
chr6:51931079 G
G
 C
C
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+3031C>G
c.6121+3031C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931079
chr6:51931107 G
G
 A
A
 2 a0026c0073t0005g0094
a0042c0035t0006g0059
a0026c0073t0005g0094
a0042c0035t0006g0059
 2 HG02717.hp1
HG02970.hp1
HG02717.hp1
HG02970.hp1
 intron_variant MODIFIER c.6121+3003C>T
c.6121+3003C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931107
chr6:51931301 G
G
 A
A
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+2809C>T
c.6121+2809C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931301
chr6:51931350 T
T
 C
C
 66 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(63): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 66 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+2760A>G
c.6121+2760A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931350
chr6:51931408 G
G
 T
T
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.6121+2702C>A
c.6121+2702C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931408
chr6:51931544 T
T
 C
C
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6121+2566A>G
c.6121+2566A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931544
chr6:51931599 C
C
 T
T
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6121+2511G>A
c.6121+2511G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931599
chr6:51931744 C
C
 T
T
 1 a0034c0085t0004g0096
a0034c0085t0004g0096
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.6121+2366G>A
c.6121+2366G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931744
chr6:51931826 AGAGAGAG
others(124): Show 
AGAGAGAGAGGAGGGAGAAGGAGAATAAAGGAGAGGGAGGGAGGAGAGGA
AGGGAGGAAAAAGGGGAGAGAGAGAGAGGAGGGAGAAGGAGAATAAAGAA
GAAAGAGGGAGAAGAGGAAGGGAGGAAGCATG
 A
A
 4 a0001c0002t0001g0113
a0004c0008t0011g0026
a0004c0046t0002g0050
others(1): Show 
a0001c0002t0001g0113
a0004c0008t0011g0026
a0004c0046t0002g0050
a0010c0026t0001g0013
 4 HG02040.hp2
NA18964.hp2
NA19005.hp1
others(1): Show 
HG02040.hp2
NA18964.hp2
NA19005.hp1
NA19007.hp1
 intron_variant MODIFIER c.6121+2153_6121+228
others(4): Show 
c.6121+2153_6121+2283del
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931826
chr6:51931953 G
G
 A
A
 60 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0117
others(57): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 60 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(57): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+2157C>T
c.6121+2157C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51931953
chr6:51932032 A
A
 G
G
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.6121+2078T>C
c.6121+2078T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932032
chr6:51932230 A
A
 G
G
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.6121+1880T>C
c.6121+1880T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932230
chr6:51932239 T
T
 C
C
 8 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0026c0073t0005g0094
a0037c0060t0005g0022
a0042c0035t0006g0059
 8 HG02257.hp2
HG02717.hp1
HG02809.hp1
others(5): Show 
HG02257.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.6121+1871A>G
c.6121+1871A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932239
chr6:51932599 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+1511A>G
c.6121+1511A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932599
chr6:51932676 C
C
 T
T
 17 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(14): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
a0046c0067t0003g0112
 17 HG00423.hp2
HG01071.hp1
HG01074.hp1
others(14): Show 
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.6121+1434G>A
c.6121+1434G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932676
chr6:51932684 A
A
 C
C
 2 a0001c0061t0001g0064
a0048c0023t0017g0081
a0001c0061t0001g0064
a0048c0023t0017g0081
 2 HG02622.hp1
HG03453.hp1
HG02622.hp1
HG03453.hp1
 intron_variant MODIFIER c.6121+1426T>G
c.6121+1426T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932684
chr6:51932685 G
G
 C
C
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.6121+1425C>G
c.6121+1425C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932685
chr6:51932780 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6121+1330C>T
c.6121+1330C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932780
chr6:51932901 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.6121+1209G>A
c.6121+1209G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51932901
chr6:51933666 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+444A>G
c.6121+444A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51933666
chr6:51933771 G
G
 A
A
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.6121+339C>T
c.6121+339C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51933771
chr6:51933929 C
C
 T
T
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.6121+181G>A
c.6121+181G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51933929
chr6:51933955 G
G
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6121+155C>T
c.6121+155C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51933955
chr6:51933962 T
T
 A
A
 25 a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
others(22): Show 
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0028t0001g0009
a0012c0029t0002g0010
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0036c0074t0003g0108
 25 HG00741.hp2
HG01081.hp1
HG01106.hp2
others(22): Show 
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp2
HG02970.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp2
HG04184.hp1
HG04228.hp2
NA18747.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.6121+148A>T
c.6121+148A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 37/66 chr6 51933962
chr6:51934344 G
G
 T
T
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
a0001c0002t0009g0099
a0001c0002t0009g0100
a0024c0068t0001g0091
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 intron_variant MODIFIER c.5909-22C>A
c.5909-22C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51934344
chr6:51934368 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-46A>G
c.5909-46A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51934368
chr6:51934654 GA
GA
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-333delT
c.5909-333delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51934654
chr6:51934691 TAGA
TAGA
 T
T
 26 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0010t0001g0077
others(23): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0011c0017t0005g0080
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 26 HG00423.hp2
HG01071.hp1
HG01074.hp1
others(23): Show 
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG02257.hp2
HG02280.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03225.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.5909-372_5909-370d
others(5): Show 
c.5909-372_5909-370delTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51934691
chr6:51934852 G
G
 C
C
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.5909-530C>G
c.5909-530C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51934852
chr6:51935104 T
T
 G
G
 50 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(47): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 50 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(47): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-782A>C
c.5909-782A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935104
chr6:51935143 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5909-821A>G
c.5909-821A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935143
chr6:51935371 T
T
 C
C
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.5909-1049A>G
c.5909-1049A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935371
chr6:51935626 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5909-1304A>G
c.5909-1304A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935626
chr6:51935647 A
A
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-1325T>C
c.5909-1325T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935647
chr6:51935663 C
C
 T
T
 5 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
others(2): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0004c0008t0003g0003
a0004c0014t0004g0033
 5 HG00741.hp2
HG01175.hp2
HG01496.hp2
others(2): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp2
HG02015.hp1
NA20300.hp2
 intron_variant MODIFIER c.5909-1341G>A
c.5909-1341G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935663
chr6:51935698 C
C
 T
T
 17 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(14): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
a0046c0067t0003g0112
 17 HG00423.hp2
HG01071.hp1
HG01074.hp1
others(14): Show 
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.5909-1376G>A
c.5909-1376G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935698
chr6:51935754 G
G
 T
T
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-1432C>A
c.5909-1432C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935754
chr6:51935801 C
C
 T
T
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5909-1479G>A
c.5909-1479G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935801
chr6:51935906 C
C
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5909-1584G>C
c.5909-1584G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935906
chr6:51935950 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5909-1628A>G
c.5909-1628A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935950
chr6:51935966 C
C
 A
A
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5909-1644G>T
c.5909-1644G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51935966
chr6:51936347 A
A
 G
G
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5909-2025T>C
c.5909-2025T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51936347
chr6:51936485 T
T
 C
C
 2 a0005c0039t0001g0030
a0041c0088t0006g0114
a0005c0039t0001g0030
a0041c0088t0006g0114
 2 HG02280.hp1
HG02818.hp2
HG02280.hp1
HG02818.hp2
 intron_variant MODIFIER c.5909-2163A>G
c.5909-2163A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51936485
chr6:51936652 A
A
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-2330T>G
c.5909-2330T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51936652
chr6:51936794 CTG
CTG
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-2474_5909-247
others(6): Show 
c.5909-2474_5909-2473delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51936794
chr6:51936825 ACT
ACT
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-2505_5909-250
others(6): Show 
c.5909-2505_5909-2504delAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51936825
chr6:51936982 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-2660A>G
c.5909-2660A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51936982
chr6:51937007 G
G
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5909-2685C>G
c.5909-2685C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937007
chr6:51937333 C
C
 T
T
 8 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0026c0073t0005g0094
a0037c0060t0005g0022
a0042c0035t0006g0059
 8 HG02257.hp2
HG02717.hp1
HG02809.hp1
others(5): Show 
HG02257.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5909-3011G>A
c.5909-3011G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937333
chr6:51937425 G
G
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3103C>T
c.5909-3103C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937425
chr6:51937468 C
C
 T
T
 10 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
others(7): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0004c0008t0003g0003
a0005c0038t0001g0034
a0008c0018t0020g0074
a0011c0017t0005g0071
a0025c0072t0001g0095
a0027c0069t0018g0092
a0039c0066t0003g0098
 10 HG00741.hp2
HG01175.hp2
HG01496.hp2
others(7): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp2
HG02280.hp2
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG06807.hp1
HG06807.hp2
NA20300.hp2
 intron_variant MODIFIER c.5909-3146G>A
c.5909-3146G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937468
chr6:51937546 C
C
 T
T
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3224G>A
c.5909-3224G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937546
chr6:51937649 C
C
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5909-3327G>T
c.5909-3327G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937649
chr6:51937698 G
G
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3376C>T
c.5909-3376C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937698
chr6:51937871 G
G
 A
A
 62 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(59): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 62 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(59): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3549C>T
c.5909-3549C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937871
chr6:51937889 G
G
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3567C>T
c.5909-3567C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937889
chr6:51937979 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3657A>G
c.5909-3657A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51937979
chr6:51938011 T
T
 C
C
 105 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(102): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 105 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(102): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3689A>G
c.5909-3689A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938011
chr6:51938012 G
G
 A
A
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.5909-3690C>T
c.5909-3690C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938012
chr6:51938101 C
C
 T
T
 8 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0026c0073t0005g0094
a0037c0060t0005g0022
a0042c0035t0006g0059
 8 HG02257.hp2
HG02717.hp1
HG02809.hp1
others(5): Show 
HG02257.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5909-3779G>A
c.5909-3779G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938101
chr6:51938126 G
G
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3804C>T
c.5909-3804C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938126
chr6:51938134 T
T
 TCTG
TCTG
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-3813_5909-381
others(7): Show 
c.5909-3813_5909-3812insCAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938134
chr6:51938142 G
G
 A
A
 2 a0002c0004t0003g0085
a0010c0028t0001g0009
a0002c0004t0003g0085
a0010c0028t0001g0009
 2 HG02155.hp2
NA20129.hp2
HG02155.hp2
NA20129.hp2
 intron_variant MODIFIER c.5909-3820C>T
c.5909-3820C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938142
chr6:51938339 G
G
 A
A
 4 a0001c0061t0001g0064
a0001c0083t0001g0125
a0018c0052t0006g0086
others(1): Show 
a0001c0061t0001g0064
a0001c0083t0001g0125
a0018c0052t0006g0086
a0048c0023t0017g0081
 4 HG02622.hp1
HG03139.hp1
HG03453.hp1
others(1): Show 
HG02622.hp1
HG03139.hp1
HG03453.hp1
NA20129.hp1
 intron_variant MODIFIER c.5909-4017C>T
c.5909-4017C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938339
chr6:51938351 G
G
 T
T
 105 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(102): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 105 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(102): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4029C>A
c.5909-4029C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938351
chr6:51938490 T
T
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5909-4168A>G
c.5909-4168A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938490
chr6:51938494 A
A
 AC
AC
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 42 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(39): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-4173dupG
c.5909-4173dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938494
chr6:51938510 C
C
 T
T
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.5909-4188G>A
c.5909-4188G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938510
chr6:51938517 GAAC
GAAC
 G
G
 61 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(58): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 61 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(58): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4198_5909-419
others(7): Show 
c.5909-4198_5909-4196delGTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938517
chr6:51938534 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.5909-4212G>A
c.5909-4212G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938534
chr6:51938541 C
C
 G
G
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5909-4219G>C
c.5909-4219G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938541
chr6:51938543 C
C
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4221G>T
c.5909-4221G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938543
chr6:51938592 C
C
 T
T
 63 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(60): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 63 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(60): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4270G>A
c.5909-4270G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938592
chr6:51938646 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4324A>G
c.5909-4324A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938646
chr6:51938654 C
C
 T
T
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4332G>A
c.5909-4332G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938654
chr6:51938676 A
A
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4354T>C
c.5909-4354T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938676
chr6:51938745 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.5909-4423G>A
c.5909-4423G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938745
chr6:51938762 G
G
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.5909-4440C>T
c.5909-4440C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938762
chr6:51938969 C
C
 T
T
 6 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
 6 HG01074.hp2
HG01433.hp1
HG02257.hp1
others(3): Show 
HG01074.hp2
HG01433.hp1
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5909-4647G>A
c.5909-4647G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51938969
chr6:51939023 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4701A>G
c.5909-4701A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939023
chr6:51939046 C
C
 T
T
 1 a0001c0010t0001g0078
a0001c0010t0001g0078
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.5909-4724G>A
c.5909-4724G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939046
chr6:51939047 G
G
 A
A
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0048c0023t0017g0081
 15 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(12): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02965.hp1
HG03139.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.5909-4725C>T
c.5909-4725C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939047
chr6:51939054 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4732A>G
c.5909-4732A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939054
chr6:51939071 C
C
 T
T
 16 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(13): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 16 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(13): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.5909-4749G>A
c.5909-4749G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939071
chr6:51939166 T
T
 C
C
 105 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(102): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 105 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(102): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4844A>G
c.5909-4844A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939166
chr6:51939215 A
A
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-4893T>C
c.5909-4893T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939215
chr6:51939661 T
T
 C
C
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5909-5339A>G
c.5909-5339A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939661
chr6:51939687 T
T
 C
C
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.5909-5365A>G
c.5909-5365A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939687
chr6:51939698 C
C
 T
T
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.5909-5376G>A
c.5909-5376G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939698
chr6:51939912 C
C
 G
G
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.5909-5590G>C
c.5909-5590G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939912
chr6:51939939 C
C
 T
T
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 42 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(39): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-5617G>A
c.5909-5617G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51939939
chr6:51940415 C
C
 T
T
 2 a0002c0079t0007g0089
a0038c0062t0002g0065
a0002c0079t0007g0089
a0038c0062t0002g0065
 2 HG01255.hp1
HG03041.hp2
HG01255.hp1
HG03041.hp2
 intron_variant MODIFIER c.5909-6093G>A
c.5909-6093G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51940415
chr6:51940501 G
G
 A
A
 2 a0006c0011t0005g0134
a0038c0062t0002g0065
a0006c0011t0005g0134
a0038c0062t0002g0065
 2 HG03041.hp2
NA19240.hp1
HG03041.hp2
NA19240.hp1
 intron_variant MODIFIER c.5909-6179C>T
c.5909-6179C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51940501
chr6:51940701 C
C
 T
T
 8 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0026c0073t0005g0094
a0037c0060t0005g0022
a0042c0035t0006g0059
 8 HG02257.hp2
HG02717.hp1
HG02809.hp1
others(5): Show 
HG02257.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5909-6379G>A
c.5909-6379G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51940701
chr6:51940707 G
G
 A
A
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0013t0001g0054
a0006c0011t0005g0134
 4 HG02922.hp2
HG02976.hp1
NA19240.hp1
others(1): Show 
HG02922.hp2
HG02976.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.5909-6385C>T
c.5909-6385C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51940707
chr6:51940735 C
C
 T
T
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.5909-6413G>A
c.5909-6413G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51940735
chr6:51940756 G
G
 A
A
 105 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(102): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 105 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(102): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-6434C>T
c.5909-6434C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51940756
chr6:51940876 T
T
 A
A
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-6554A>T
c.5909-6554A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51940876
chr6:51941057 C
C
 A
A
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.5909-6735G>T
c.5909-6735G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941057
chr6:51941151 T
T
 A
A
 4 a0001c0061t0001g0064
a0001c0083t0001g0125
a0018c0052t0006g0086
others(1): Show 
a0001c0061t0001g0064
a0001c0083t0001g0125
a0018c0052t0006g0086
a0048c0023t0017g0081
 4 HG02622.hp1
HG03139.hp1
HG03453.hp1
others(1): Show 
HG02622.hp1
HG03139.hp1
HG03453.hp1
NA20129.hp1
 intron_variant MODIFIER c.5909-6829A>T
c.5909-6829A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941151
chr6:51941157 C
C
 G
G
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.5909-6835G>C
c.5909-6835G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941157
chr6:51941236 C
C
 CT
CT
 16 a0001c0009t0001g0103
a0001c0019t0001g0097
a0001c0022t0001g0132
others(13): Show 
a0001c0009t0001g0103
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0003c0013t0001g0052
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0078t0005g0104
a0008c0053t0016g0069
a0016c0090t0001g0120
a0022c0042t0002g0051
a0030c0055t0002g0072
 16 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(13): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG02015.hp2
HG02155.hp1
HG02451.hp2
HG02622.hp2
HG02698.hp2
HG02818.hp1
HG02965.hp2
HG03239.hp2
HG03704.hp2
HG04204.hp2
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.5909-6915dupA
c.5909-6915dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941236
chr6:51941236 C
C
 CTT
CTT
 6 a0001c0009t0001g0106
a0001c0009t0001g0123
a0004c0006t0002g0048
others(3): Show 
a0001c0009t0001g0106
a0001c0009t0001g0123
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0032c0058t0001g0070
 6 HG01261.hp1
HG02055.hp1
HG02717.hp2
others(3): Show 
HG01261.hp1
HG02055.hp1
HG02717.hp2
HG03516.hp1
HG03516.hp2
HG04228.hp1
 intron_variant MODIFIER c.5909-6916_5909-691
others(6): Show 
c.5909-6916_5909-6915dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941236
chr6:51941236 CTTTT
CTTTT
 C
C
 5 a0001c0001t0001g0061
a0003c0012t0001g0032
a0007c0003t0001g0011
others(2): Show 
a0001c0001t0001g0061
a0003c0012t0001g0032
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
 5 HG00423.hp2
HG02451.hp1
HG02698.hp1
others(2): Show 
HG00423.hp2
HG02451.hp1
HG02698.hp1
NA18975.hp2
NA18989.hp1
 intron_variant MODIFIER c.5909-6918_5909-691
others(8): Show 
c.5909-6918_5909-6915delAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941236
chr6:51941236 CTTTTT
CTTTTT
 C
C
 35 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(32): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0093t0001g0127
a0002c0020t0003g0084
a0002c0079t0007g0089
a0003c0007t0001g0043
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0134
a0008c0018t0020g0074
a0009c0087t0001g0111
a0018c0052t0006g0086
a0020c0050t0001g0023
a0024c0068t0001g0091
a0026c0073t0005g0094
a0029c0070t0008g0090
a0031c0057t0013g0067
a0034c0085t0004g0096
a0035c0086t0001g0109
a0038c0062t0002g0065
a0043c0063t0005g0066
a0044c0075t0001g0119
a0048c0023t0017g0081
 35 HG00423.hp1
HG01071.hp1
HG01074.hp2
others(32): Show 
HG00423.hp1
HG01071.hp1
HG01074.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02717.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03453.hp1
HG04204.hp1
NA18964.hp1
NA18988.hp1
NA18989.hp2
NA19007.hp2
NA19054.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-6919_5909-691
others(9): Show 
c.5909-6919_5909-6915delAAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941236
chr6:51941236 CTTTTTT
CTTTTTT
 C
C
 59 a0001c0001t0001g0058
a0001c0002t0001g0083
a0001c0002t0001g0107
others(56): Show 
a0001c0001t0001g0058
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0032t0001g0075
a0001c0034t0001g0016
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0007c0003t0001g0006
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0045c0084t0006g0087
a0046c0067t0003g0112
 59 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(56): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02897.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-6920_5909-691
others(10): Show 
c.5909-6920_5909-6915delAAAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941236
chr6:51941236 CTTTTTTT
CTTTTTTT
 C
C
 5 a0001c0001t0001g0062
a0001c0082t0001g0105
a0001c0094t0001g0131
others(2): Show 
a0001c0001t0001g0062
a0001c0082t0001g0105
a0001c0094t0001g0131
a0006c0011t0005g0063
a0037c0060t0005g0022
 5 HG02809.hp1
HG02809.hp2
HG02922.hp1
others(2): Show 
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp2
HG03225.hp1
 intron_variant MODIFIER c.5909-6921_5909-691
others(11): Show 
c.5909-6921_5909-6915delAAAAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941236
chr6:51941236 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 C
C
 1 a0006c0076t0005g0088
a0006c0076t0005g0088
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.5909-6929_5909-691
others(19): Show 
c.5909-6929_5909-6915delAAAAAAAAAAAAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941236
chr6:51941288 G
G
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5909-6966C>T
c.5909-6966C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941288
chr6:51941296 C
C
 G
G
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5909-6974G>C
c.5909-6974G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941296
chr6:51941303 C
C
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5909-6981G>A
c.5909-6981G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941303
chr6:51941341 C
C
 T
T
 5 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(2): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.5909-7019G>A
c.5909-7019G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941341
chr6:51941357 G
G
 A
A
 2 a0002c0079t0007g0089
a0038c0062t0002g0065
a0002c0079t0007g0089
a0038c0062t0002g0065
 2 HG01255.hp1
HG03041.hp2
HG01255.hp1
HG03041.hp2
 intron_variant MODIFIER c.5909-7035C>T
c.5909-7035C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941357
chr6:51941381 G
G
 A
A
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 42 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(39): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-7059C>T
c.5909-7059C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941381
chr6:51941405 G
G
 A
A
 7 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
a0042c0035t0006g0059
 7 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(4): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5909-7083C>T
c.5909-7083C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941405
chr6:51941413 G
G
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-7091C>T
c.5909-7091C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941413
chr6:51941417 G
G
 A
A
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 42 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(39): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-7095C>T
c.5909-7095C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941417
chr6:51941535 G
G
 A
A
 2 a0002c0079t0007g0089
a0038c0062t0002g0065
a0002c0079t0007g0089
a0038c0062t0002g0065
 2 HG01255.hp1
HG03041.hp2
HG01255.hp1
HG03041.hp2
 intron_variant MODIFIER c.5909-7213C>T
c.5909-7213C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941535
chr6:51941551 A
A
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-7229T>C
c.5909-7229T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941551
chr6:51941553 C
C
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5909-7231G>T
c.5909-7231G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941553
chr6:51941597 A
A
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-7275T>G
c.5909-7275T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941597
chr6:51941836 C
C
 T
T
 35 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(32): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 35 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(32): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01243.hp1
HG01952.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-7514G>A
c.5909-7514G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941836
chr6:51941873 C
C
 A
A
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5909-7551G>T
c.5909-7551G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941873
chr6:51941877 C
C
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-7555G>C
c.5909-7555G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51941877
chr6:51942042 T
T
 C
C
 50 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(47): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0036c0074t0003g0108
a0040c0081t0001g0124
 50 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(47): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-7720A>G
c.5909-7720A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51942042
chr6:51942291 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-7969A>G
c.5909-7969A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51942291
chr6:51942554 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5909-8232G>A
c.5909-8232G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51942554
chr6:51942699 T
T
 A
A
 2 a0028c0071t0012g0093
a0031c0057t0013g0067
a0028c0071t0012g0093
a0031c0057t0013g0067
 2 HG00741.hp1
HG02896.hp1
HG00741.hp1
HG02896.hp1
 intron_variant MODIFIER c.5909-8377A>T
c.5909-8377A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51942699
chr6:51942747 T
T
 C
C
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.5909-8425A>G
c.5909-8425A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51942747
chr6:51942983 G
G
 A
A
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5909-8661C>T
c.5909-8661C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51942983
chr6:51942992 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5909-8670T>C
c.5909-8670T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51942992
chr6:51943014 G
G
 C
C
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5909-8692C>G
c.5909-8692C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943014
chr6:51943048 C
C
 T
T
 1 a0011c0017t0005g0080
a0011c0017t0005g0080
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.5909-8726G>A
c.5909-8726G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943048
chr6:51943052 C
C
 A
A
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.5909-8730G>T
c.5909-8730G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943052
chr6:51943289 T
T
 A
A
 1 a0004c0006t0002g0055
a0004c0006t0002g0055
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.5909-8967A>T
c.5909-8967A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943289
chr6:51943328 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5909-9006C>T
c.5909-9006C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943328
chr6:51943596 G
G
 C
C
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.5909-9274C>G
c.5909-9274C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943596
chr6:51943710 T
T
 C
C
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-9388A>G
c.5909-9388A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943710
chr6:51943943 G
G
 A
A
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-9621C>T
c.5909-9621C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51943943
chr6:51944033 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5909-9711G>A
c.5909-9711G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944033
chr6:51944087 TA
TA
 T
T
 7 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
a0042c0035t0006g0059
 7 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(4): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5909-9766delT
c.5909-9766delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944087
chr6:51944206 C
C
 T
T
 63 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(60): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 63 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(60): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-9884G>A
c.5909-9884G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944206
chr6:51944244 C
C
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.5909-9922G>A
c.5909-9922G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944244
chr6:51944280 C
C
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-9958G>C
c.5909-9958G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944280
chr6:51944283 C
C
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-9961G>T
c.5909-9961G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944283
chr6:51944337 G
G
 A
A
 2 a0008c0018t0020g0074
a0011c0017t0005g0071
a0008c0018t0020g0074
a0011c0017t0005g0071
 2 HG02280.hp2
HG03098.hp1
HG02280.hp2
HG03098.hp1
 intron_variant MODIFIER c.5909-10015C>T
c.5909-10015C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944337
chr6:51944419 G
G
 A
A
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5909-10097C>T
c.5909-10097C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944419
chr6:51944540 C
C
 T
T
 7 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
a0042c0035t0006g0059
 7 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(4): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5909-10218G>A
c.5909-10218G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944540
chr6:51944819 T
T
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-10497A>C
c.5909-10497A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944819
chr6:51944874 C
C
 G
G
 17 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(14): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
a0046c0067t0003g0112
 17 HG00423.hp2
HG01071.hp1
HG01074.hp1
others(14): Show 
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.5909-10552G>C
c.5909-10552G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944874
chr6:51944946 G
G
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-10624C>T
c.5909-10624C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51944946
chr6:51945111 A
A
 G
G
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.5909-10789T>C
c.5909-10789T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945111
chr6:51945118 C
C
 G
G
 2 a0005c0039t0001g0030
a0041c0088t0006g0114
a0005c0039t0001g0030
a0041c0088t0006g0114
 2 HG02280.hp1
HG02818.hp2
HG02280.hp1
HG02818.hp2
 intron_variant MODIFIER c.5909-10796G>C
c.5909-10796G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945118
chr6:51945436 C
C
 A
A
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.5909-11114G>T
c.5909-11114G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945436
chr6:51945663 T
T
 G
G
 2 a0002c0079t0007g0089
a0038c0062t0002g0065
a0002c0079t0007g0089
a0038c0062t0002g0065
 2 HG01255.hp1
HG03041.hp2
HG01255.hp1
HG03041.hp2
 intron_variant MODIFIER c.5909-11341A>C
c.5909-11341A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945663
chr6:51945672 C
C
 A
A
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 42 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(39): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-11350G>T
c.5909-11350G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945672
chr6:51945701 T
T
 C
C
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.5909-11379A>G
c.5909-11379A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945701
chr6:51945799 C
C
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5909-11477G>A
c.5909-11477G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945799
chr6:51945946 C
C
 T
T
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.5909-11624G>A
c.5909-11624G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51945946
chr6:51946153 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5909-11831T>C
c.5909-11831T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946153
chr6:51946270 T
T
 C
C
 4 a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
others(1): Show 
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
 4 HG01074.hp2
HG01433.hp1
HG02257.hp1
others(1): Show 
HG01074.hp2
HG01433.hp1
HG02257.hp1
HG02486.hp2
 intron_variant MODIFIER c.5909-11948A>G
c.5909-11948A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946270
chr6:51946377 T
T
 A
A
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.5909-12055A>T
c.5909-12055A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946377
chr6:51946435 C
C
 T
T
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.5909-12113G>A
c.5909-12113G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946435
chr6:51946811 T
T
 C
C
 1 a0004c0014t0004g0024
a0004c0014t0004g0024
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.5909-12489A>G
c.5909-12489A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946811
chr6:51946902 G
G
 A
A
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.5909-12580C>T
c.5909-12580C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946902
chr6:51946991 T
T
 A
A
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-12669A>T
c.5909-12669A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946991
chr6:51946993 A
A
 G
G
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.5909-12671T>C
c.5909-12671T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51946993
chr6:51947017 A
A
 G
G
 62 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(59): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 62 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(59): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5909-12695T>C
c.5909-12695T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947017
chr6:51947043 C
C
 T
T
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5909-12721G>A
c.5909-12721G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947043
chr6:51947090 G
G
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5909-12768C>A
c.5909-12768C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947090
chr6:51947467 C
C
 T
T
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.5908+12403G>A
c.5908+12403G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947467
chr6:51947629 C
C
 T
T
 41 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(38): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 41 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(38): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5908+12241G>A
c.5908+12241G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947629
chr6:51947832 C
C
 G
G
 16 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(13): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 16 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(13): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.5908+12038G>C
c.5908+12038G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947832
chr6:51947913 G
G
 T
T
 41 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(38): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 41 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(38): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5908+11957C>A
c.5908+11957C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947913
chr6:51947958 C
C
 T
T
 2 a0008c0018t0020g0074
a0011c0017t0005g0071
a0008c0018t0020g0074
a0011c0017t0005g0071
 2 HG02280.hp2
HG03098.hp1
HG02280.hp2
HG03098.hp1
 intron_variant MODIFIER c.5908+11912G>A
c.5908+11912G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947958
chr6:51947960 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5908+11910A>G
c.5908+11910A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51947960
chr6:51948348 T
T
 A
A
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.5908+11522A>T
c.5908+11522A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51948348
chr6:51948412 A
A
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+11458T>G
c.5908+11458T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51948412
chr6:51948696 G
G
 T
T
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5908+11174C>A
c.5908+11174C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51948696
chr6:51948742 T
T
 C
C
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5908+11128A>G
c.5908+11128A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51948742
chr6:51948816 A
A
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+11054T>C
c.5908+11054T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51948816
chr6:51948879 C
C
 T
T
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.5908+10991G>A
c.5908+10991G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51948879
chr6:51949063 C
C
 G
G
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5908+10807G>C
c.5908+10807G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51949063
chr6:51949418 C
C
 T
T
 62 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(59): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 62 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(59): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+10452G>A
c.5908+10452G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51949418
chr6:51949419 A
A
 G
G
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+10451T>C
c.5908+10451T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51949419
chr6:51949568 G
G
 C
C
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.5908+10302C>G
c.5908+10302C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51949568
chr6:51949873 G
G
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5908+9997C>G
c.5908+9997C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51949873
chr6:51949977 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+9893A>G
c.5908+9893A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51949977
chr6:51950039 G
G
 A
A
 1 a0002c0080t0002g0121
a0002c0080t0002g0121
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.5908+9831C>T
c.5908+9831C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950039
chr6:51950210 G
G
 GAAAAA
GAAAAA
 10 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0083t0001g0125
others(7): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0083t0001g0125
a0001c0094t0001g0131
a0003c0048t0001g0047
a0006c0011t0005g0063
a0009c0087t0001g0111
a0011c0017t0005g0080
a0037c0060t0005g0022
a0042c0035t0006g0059
 10 HG01243.hp1
HG02257.hp2
HG02486.hp2
others(7): Show 
HG01243.hp1
HG02257.hp2
HG02486.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.5908+9655_5908+965
others(9): Show 
c.5908+9655_5908+9659dupTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950210
chr6:51950218 A
A
 AATATATA
others(13): Show 
AATATATATATATATATATAT
 1 a0002c0004t0003g0085
a0002c0004t0003g0085
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.5908+9651_5908+965
others(24): Show 
c.5908+9651_5908+9652insATATATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950218
chr6:51950220 A
A
 AAAAAAAA
others(26): Show 
AAAAAAAAAAAAAAAAAAATATATATATATATAT
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(37): Show 
c.5908+9649_5908+9650insATATATATATATATATTTTTTTTTTT
TTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(13): Show 
AAAAAAAAAAAAAAAATATAT
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(24): Show 
c.5908+9649_5908+9650insATATATTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(11): Show 
AAAAAAAAAAAAAATATAT
 1 a0001c0002t0009g0100
a0001c0002t0009g0100
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(22): Show 
c.5908+9649_5908+9650insATATATTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(13): Show 
AAAAAAAAAAAAAATATATAT
 1 a0024c0068t0001g0091
a0024c0068t0001g0091
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(24): Show 
c.5908+9649_5908+9650insATATATATTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(15): Show 
AAAAAAAAAAAAAATATATATAT
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(26): Show 
c.5908+9649_5908+9650insATATATATATTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(10): Show 
AAAAAAAAAAAAATATAT
 1 a0001c0002t0009g0099
a0001c0002t0009g0099
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(21): Show 
c.5908+9649_5908+9650insATATATTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(10): Show 
AAAAAAAAAAATATATAT
 2 a0001c0034t0001g0016
a0002c0065t0007g0068
a0001c0034t0001g0016
a0002c0065t0007g0068
 2 HG02040.hp1
HG03453.hp2
HG02040.hp1
HG03453.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(21): Show 
c.5908+9649_5908+9650insATATATATTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(10): Show 
AAAAAAAAATATATATAT
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(21): Show 
c.5908+9649_5908+9650insATATATATATTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(11): Show 
AAAAAAAATATATATATAT
 4 a0001c0002t0001g0113
a0004c0008t0011g0026
a0014c0024t0001g0004
others(1): Show 
a0001c0002t0001g0113
a0004c0008t0011g0026
a0014c0024t0001g0004
a0015c0025t0001g0031
 4 HG02040.hp2
HG03669.hp1
NA18747.hp1
others(1): Show 
HG02040.hp2
HG03669.hp1
NA18747.hp1
NA18964.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(22): Show 
c.5908+9649_5908+9650insATATATATATATTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(13): Show 
AAAAAAAATATATATATATAT
 2 a0002c0004t0003g0126
a0004c0014t0004g0024
a0002c0004t0003g0126
a0004c0014t0004g0024
 2 HG01081.hp1
HG03239.hp1
HG01081.hp1
HG03239.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(24): Show 
c.5908+9649_5908+9650insATATATATATATATTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(15): Show 
AAAAAAAATATATATATATATAT
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(26): Show 
c.5908+9649_5908+9650insATATATATATATATATTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAA
others(17): Show 
AAAAAAAATATATATATATATATAT
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(28): Show 
c.5908+9649_5908+9650insATATATATATATATATATTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAT
others(4): Show 
AAAAAAATATAT
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(15): Show 
c.5908+9649_5908+9650insATATATTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAT
others(10): Show 
AAAAAAATATATATATAT
 2 a0002c0020t0003g0084
a0010c0026t0001g0013
a0002c0020t0003g0084
a0010c0026t0001g0013
 2 NA18989.hp2
NA19007.hp1
NA18989.hp2
NA19007.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(21): Show 
c.5908+9649_5908+9650insATATATATATATTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAT
others(12): Show 
AAAAAAATATATATATATAT
 3 a0003c0007t0001g0043
a0003c0015t0001g0041
a0023c0044t0001g0044
a0003c0007t0001g0043
a0003c0015t0001g0041
a0023c0044t0001g0044
 3 HG01175.hp2
HG01952.hp1
NA20300.hp2
HG01175.hp2
HG01952.hp1
NA20300.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(23): Show 
c.5908+9649_5908+9650insATATATATATATATTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAT
others(14): Show 
AAAAAAATATATATATATATAT
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(25): Show 
c.5908+9649_5908+9650insATATATATATATATATTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAAAT
others(24): Show 
AAAAAAATATATATATATATATATATATATAT
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(35): Show 
c.5908+9649_5908+9650insATATATATATATATATATATATATAT
TTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAATA
others(9): Show 
AAAAAATATATATATAT
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(20): Show 
c.5908+9649_5908+9650insATATATATATATTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAATA
others(11): Show 
AAAAAATATATATATATAT
 11 a0001c0002t0001g0107
a0001c0002t0001g0117
a0001c0082t0001g0105
others(8): Show 
a0001c0002t0001g0107
a0001c0002t0001g0117
a0001c0082t0001g0105
a0002c0004t0004g0115
a0002c0033t0002g0017
a0002c0092t0004g0002
a0004c0046t0002g0050
a0004c0064t0003g0053
a0010c0030t0001g0007
a0012c0029t0002g0010
a0013c0095t0014g0122
 11 HG00738.hp2
HG02970.hp2
HG03669.hp2
others(8): Show 
HG00738.hp2
HG02970.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp2
NA18747.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp1
NA19090.hp2
NA20752.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(22): Show 
c.5908+9649_5908+9650insATATATATATATATTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAATA
others(13): Show 
AAAAAATATATATATATATAT
 3 a0001c0032t0001g0075
a0017c0089t0002g0116
a0021c0045t0001g0036
a0001c0032t0001g0075
a0017c0089t0002g0116
a0021c0045t0001g0036
 3 HG01243.hp2
HG01433.hp2
HG04184.hp1
HG01243.hp2
HG01433.hp2
HG04184.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(24): Show 
c.5908+9649_5908+9650insATATATATATATATATTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAAATA
others(15): Show 
AAAAAATATATATATATATATAT
 2 a0002c0005t0004g0076
a0036c0074t0003g0108
a0002c0005t0004g0076
a0036c0074t0003g0108
 2 HG01106.hp2
HG04228.hp2
HG01106.hp2
HG04228.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(26): Show 
c.5908+9649_5908+9650insATATATATATATATATATTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAATAT
others(2): Show 
AAAAATATAT
 6 a0003c0012t0001g0032
a0006c0011t0005g0134
a0007c0003t0001g0006
others(3): Show 
a0003c0012t0001g0032
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 6 HG00423.hp2
NA18975.hp2
NA18989.hp1
others(3): Show 
HG00423.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19090.hp1
NA19240.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(13): Show 
c.5908+9649_5908+9650insATATATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAATAT
others(10): Show 
AAAAATATATATATATAT
 3 a0002c0005t0002g0021
a0002c0080t0002g0121
a0009c0056t0001g0073
a0002c0005t0002g0021
a0002c0080t0002g0121
a0009c0056t0001g0073
 3 HG03486.hp1
HG03486.hp2
NA19001.hp1
HG03486.hp1
HG03486.hp2
NA19001.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(21): Show 
c.5908+9649_5908+9650insATATATATATATATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAATAT
others(12): Show 
AAAAATATATATATATATAT
 2 a0003c0007t0001g0037
a0012c0027t0002g0005
a0003c0007t0001g0037
a0012c0027t0002g0005
 2 HG00741.hp2
NA18988.hp2
HG00741.hp2
NA18988.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(23): Show 
c.5908+9649_5908+9650insATATATATATATATATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAATAT
others(14): Show 
AAAAATATATATATATATATAT
 3 a0002c0004t0010g0101
a0003c0036t0001g0042
a0004c0008t0003g0003
a0002c0004t0010g0101
a0003c0036t0001g0042
a0004c0008t0003g0003
 3 HG01496.hp1
HG01496.hp2
HG02683.hp1
HG01496.hp1
HG01496.hp2
HG02683.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(25): Show 
c.5908+9649_5908+9650insATATATATATATATATATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAAATAT
others(20): Show 
AAAAATATATATATATATATATATATAT
 2 a0004c0014t0004g0033
a0031c0057t0013g0067
a0004c0014t0004g0033
a0031c0057t0013g0067
 2 HG02015.hp1
HG02896.hp1
HG02015.hp1
HG02896.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(31): Show 
c.5908+9649_5908+9650insATATATATATATATATATATATATTT
T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAATATA
others(9): Show 
AAAATATATATATATAT
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(20): Show 
c.5908+9649_5908+9650insATATATATATATATTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAATATA
others(11): Show 
AAAATATATATATATATAT
 2 a0002c0020t0008g0110
a0040c0081t0001g0124
a0002c0020t0008g0110
a0040c0081t0001g0124
 2 HG03471.hp1
NA18971.hp1
HG03471.hp1
NA18971.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(22): Show 
c.5908+9649_5908+9650insATATATATATATATATTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAATATA
others(13): Show 
AAAATATATATATATATATAT
 1 a0029c0070t0008g0090
a0029c0070t0008g0090
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(24): Show 
c.5908+9649_5908+9650insATATATATATATATATATTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAAATATA
others(15): Show 
AAAATATATATATATATATATAT
 1 a0043c0063t0005g0066
a0043c0063t0005g0066
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(26): Show 
c.5908+9649_5908+9650insATATATATATATATATATATTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AAATATAT
others(10): Show 
AAATATATATATATATAT
 1 a0003c0015t0001g0039
a0003c0015t0001g0039
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+9649_5908+965
others(21): Show 
c.5908+9649_5908+9650insATATATATATATATATT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AATATATA
others(15): Show 
AATATATATATATATATATATAT
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(26): Show 
c.5908+9649_5908+9650insATATATATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 AT
AT
 2 a0009c0054t0001g0082
a0030c0055t0002g0072
a0009c0054t0001g0082
a0030c0055t0002g0072
 2 HG02818.hp1
HG02976.hp2
HG02818.hp1
HG02976.hp2
 intron_variant MODIFIER c.5908+9649_5908+965
others(5): Show 
c.5908+9649_5908+9650insA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950220 A
A
 T
T
 3 a0001c0009t0001g0106
a0002c0004t0003g0085
a0025c0072t0001g0095
a0001c0009t0001g0106
a0002c0004t0003g0085
a0025c0072t0001g0095
 3 HG01261.hp1
HG02155.hp2
HG06807.hp2
HG01261.hp1
HG02155.hp2
HG06807.hp2
 intron_variant MODIFIER c.5908+9650T>A
c.5908+9650T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950220
chr6:51950222 T
T
 A
A
 22 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
others(19): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0091t0007g0133
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0043t0015g0057
a0005c0037t0001g0038
a0006c0011t0005g0063
a0006c0076t0005g0088
a0008c0053t0016g0069
a0011c0017t0005g0080
a0016c0090t0001g0120
a0037c0060t0005g0022
 22 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(19): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG02055.hp1
HG02155.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02809.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.5908+9648A>T
c.5908+9648A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950222
chr6:51950224 T
T
 A
A
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.5908+9646A>T
c.5908+9646A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950224
chr6:51950315 T
T
 C
C
 2 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0060
a0001c0001t0001g0061
 2 HG02451.hp1
HG02965.hp1
HG02451.hp1
HG02965.hp1
 intron_variant MODIFIER c.5908+9555A>G
c.5908+9555A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950315
chr6:51950375 A
A
 G
G
 42 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(39): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 42 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(39): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5908+9495T>C
c.5908+9495T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950375
chr6:51950472 A
A
 G
G
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5908+9398T>C
c.5908+9398T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950472
chr6:51950654 G
G
 A
A
 2 a0041c0088t0006g0114
a0045c0084t0006g0087
a0041c0088t0006g0114
a0045c0084t0006g0087
 2 HG02280.hp1
HG03041.hp1
HG02280.hp1
HG03041.hp1
 intron_variant MODIFIER c.5908+9216C>T
c.5908+9216C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950654
chr6:51950728 G
G
 T
T
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.5908+9142C>A
c.5908+9142C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950728
chr6:51950756 C
C
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5908+9114G>T
c.5908+9114G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950756
chr6:51950818 G
G
 A
A
 63 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(60): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 63 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(60): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+9052C>T
c.5908+9052C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950818
chr6:51950982 C
C
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5908+8888G>T
c.5908+8888G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51950982
chr6:51951047 C
C
 T
T
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+8823G>A
c.5908+8823G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951047
chr6:51951160 A
A
 G
G
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.5908+8710T>C
c.5908+8710T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951160
chr6:51951346 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5908+8524C>T
c.5908+8524C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951346
chr6:51951360 G
G
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5908+8510C>A
c.5908+8510C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951360
chr6:51951596 T
T
 C
C
 12 a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
others(9): Show 
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0041t0001g0046
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
 12 HG00423.hp2
HG01071.hp1
HG02683.hp2
others(9): Show 
HG00423.hp2
HG01071.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.5908+8274A>G
c.5908+8274A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951596
chr6:51951638 A
A
 C
C
 3 a0001c0002t0001g0083
a0002c0020t0003g0084
a0002c0033t0002g0017
a0001c0002t0001g0083
a0002c0020t0003g0084
a0002c0033t0002g0017
 3 NA18747.hp2
NA18975.hp1
NA18989.hp2
NA18747.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.5908+8232T>G
c.5908+8232T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951638
chr6:51951684 A
A
 G
G
 2 a0008c0018t0020g0074
a0011c0017t0005g0071
a0008c0018t0020g0074
a0011c0017t0005g0071
 2 HG02280.hp2
HG03098.hp1
HG02280.hp2
HG03098.hp1
 intron_variant MODIFIER c.5908+8186T>C
c.5908+8186T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951684
chr6:51951940 A
A
 G
G
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5908+7930T>C
c.5908+7930T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51951940
chr6:51952380 G
G
 A
A
 1 a0012c0027t0002g0005
a0012c0027t0002g0005
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.5908+7490C>T
c.5908+7490C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51952380
chr6:51952406 C
C
 G
G
 21 a0001c0032t0001g0075
a0001c0034t0001g0016
a0002c0004t0003g0085
others(18): Show 
a0001c0032t0001g0075
a0001c0034t0001g0016
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0005t0002g0018
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0064t0003g0053
a0010c0028t0001g0009
a0012c0029t0002g0010
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0036c0074t0003g0108
 21 HG00741.hp2
HG01081.hp1
HG01106.hp2
others(18): Show 
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG02015.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp2
HG03669.hp2
HG04184.hp1
HG04228.hp2
NA18747.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.5908+7464G>C
c.5908+7464G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51952406
chr6:51952511 A
A
 G
G
 2 a0001c0061t0001g0064
a0048c0023t0017g0081
a0001c0061t0001g0064
a0048c0023t0017g0081
 2 HG02622.hp1
HG03453.hp1
HG02622.hp1
HG03453.hp1
 intron_variant MODIFIER c.5908+7359T>C
c.5908+7359T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51952511
chr6:51952553 A
A
 C
C
 5 a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
others(2): Show 
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 5 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(2): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.5908+7317T>G
c.5908+7317T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51952553
chr6:51952966 G
G
 T
T
 9 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
others(6): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0034c0085t0004g0096
a0035c0086t0001g0109
 9 HG00423.hp1
HG01074.hp2
HG01243.hp1
others(6): Show 
HG00423.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02486.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5908+6904C>A
c.5908+6904C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51952966
chr6:51953261 C
C
 G
G
 7 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
a0042c0035t0006g0059
 7 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(4): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5908+6609G>C
c.5908+6609G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51953261
chr6:51954277 C
C
 T
T
 41 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(38): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 41 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(38): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5908+5593G>A
c.5908+5593G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51954277
chr6:51954451 C
C
 T
T
 8 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0026c0073t0005g0094
a0037c0060t0005g0022
a0042c0035t0006g0059
 8 HG02257.hp2
HG02717.hp1
HG02809.hp1
others(5): Show 
HG02257.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5908+5419G>A
c.5908+5419G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51954451
chr6:51954709 G
G
 A
A
 1 a0002c0080t0002g0121
a0002c0080t0002g0121
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.5908+5161C>T
c.5908+5161C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51954709
chr6:51954744 TTG
TTG
 T
T
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+5124_5908+512
others(6): Show 
c.5908+5124_5908+5125delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51954744
chr6:51955125 T
T
 C
C
 2 a0001c0009t0001g0103
a0006c0078t0005g0104
a0001c0009t0001g0103
a0006c0078t0005g0104
 2 HG02451.hp2
HG02622.hp2
HG02451.hp2
HG02622.hp2
 intron_variant MODIFIER c.5908+4745A>G
c.5908+4745A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51955125
chr6:51955150 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5908+4720A>G
c.5908+4720A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51955150
chr6:51955197 AT
AT
 A
A
 17 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(14): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0019c0049t0001g0035
a0020c0050t0001g0023
a0044c0075t0001g0119
a0046c0067t0003g0112
 17 HG00423.hp2
HG01071.hp1
HG01074.hp1
others(14): Show 
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG02683.hp2
HG02698.hp1
HG02922.hp2
HG02976.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.5908+4672delA
c.5908+4672delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51955197
chr6:51955207 T
T
 A
A
 2 a0005c0039t0001g0030
a0009c0087t0001g0111
a0005c0039t0001g0030
a0009c0087t0001g0111
 2 HG01243.hp1
HG02818.hp2
HG01243.hp1
HG02818.hp2
 intron_variant MODIFIER c.5908+4663A>T
c.5908+4663A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51955207
chr6:51955208 A
A
 T
T
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5908+4662T>A
c.5908+4662T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51955208
chr6:51956077 C
C
 T
T
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.5908+3793G>A
c.5908+3793G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956077
chr6:51956094 T
T
 C
C
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+3776A>G
c.5908+3776A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956094
chr6:51956183 A
A
 G
G
 64 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(61): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 64 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(61): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+3687T>C
c.5908+3687T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956183
chr6:51956250 G
G
 A
A
 116 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(113): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 116 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(113): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+3620C>T
c.5908+3620C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956250
chr6:51956291 T
T
 C
C
 104 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(101): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 104 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(101): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+3579A>G
c.5908+3579A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956291
chr6:51956292 G
G
 A
A
 6 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
others(3): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
 6 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(3): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.5908+3578C>T
c.5908+3578C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956292
chr6:51956305 CGT
CGT
 C
C
 3 a0001c0061t0001g0064
a0038c0062t0002g0065
a0048c0023t0017g0081
a0001c0061t0001g0064
a0038c0062t0002g0065
a0048c0023t0017g0081
 3 HG02622.hp1
HG03041.hp2
HG03453.hp1
HG02622.hp1
HG03041.hp2
HG03453.hp1
 intron_variant MODIFIER c.5908+3563_5908+356
others(6): Show 
c.5908+3563_5908+3564delAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956305
chr6:51956305 CGTGT
CGTGT
 C
C
 82 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
others(79): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 82 HG00423.hp2
HG00738.hp2
HG00741.hp2
others(79): Show 
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+3561_5908+356
others(8): Show 
c.5908+3561_5908+3564delACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956305
chr6:51956305 CGTGTGT
CGTGTGT
 C
C
 20 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(17): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0079t0007g0089
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0040t0001g0029
a0009c0087t0001g0111
a0018c0052t0006g0086
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0043c0063t0005g0066
a0045c0084t0006g0087
 20 HG00423.hp1
HG00741.hp1
HG01074.hp2
others(17): Show 
HG00423.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp2
NA18988.hp1
NA19054.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.5908+3559_5908+356
others(10): Show 
c.5908+3559_5908+3564delACACAC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956305
chr6:51956411 T
T
 C
C
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.5908+3459A>G
c.5908+3459A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956411
chr6:51956679 G
G
 A
A
 1 a0006c0076t0005g0088
a0006c0076t0005g0088
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.5908+3191C>T
c.5908+3191C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956679
chr6:51956680 G
G
 A
A
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.5908+3190C>T
c.5908+3190C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956680
chr6:51956843 G
G
 C
C
 17 a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0065t0007g0068
others(14): Show 
a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0065t0007g0068
a0002c0079t0007g0089
a0005c0038t0001g0034
a0008c0018t0020g0074
a0011c0017t0005g0071
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0038c0062t0002g0065
a0039c0066t0003g0098
a0043c0063t0005g0066
 17 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(14): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02280.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG06807.hp1
HG06807.hp2
NA20300.hp1
 intron_variant MODIFIER c.5908+3027C>G
c.5908+3027C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51956843
chr6:51957170 G
G
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5908+2700C>G
c.5908+2700C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51957170
chr6:51957256 G
G
 C
C
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5908+2614C>G
c.5908+2614C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51957256
chr6:51957499 A
A
 G
G
 43 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(40): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0011c0017t0005g0080
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0048c0023t0017g0081
 43 HG00423.hp1
HG00423.hp2
HG01071.hp1
others(40): Show 
HG00423.hp1
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.5908+2371T>C
c.5908+2371T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51957499
chr6:51957609 T
T
 A
A
 23 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
others(20): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0094t0001g0131
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0041t0001g0046
a0005c0039t0001g0030
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0011c0017t0005g0080
a0019c0049t0001g0035
a0020c0050t0001g0023
a0037c0060t0005g0022
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 23 HG00423.hp2
HG01071.hp1
HG01074.hp1
others(20): Show 
HG00423.hp2
HG01071.hp1
HG01074.hp1
HG02280.hp1
HG02683.hp2
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03540.hp1
HG04204.hp1
NA18964.hp1
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.5908+2261A>T
c.5908+2261A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51957609
chr6:51957706 T
T
 C
C
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5908+2164A>G
c.5908+2164A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51957706
chr6:51958233 AAAG
AAAG
 A
A
 4 a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
others(1): Show 
a0001c0094t0001g0131
a0006c0011t0005g0063
a0011c0017t0005g0080
a0037c0060t0005g0022
 4 HG02809.hp1
HG02809.hp2
HG02922.hp1
others(1): Show 
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG03540.hp1
 intron_variant MODIFIER c.5908+1634_5908+163
others(7): Show 
c.5908+1634_5908+1636delCTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51958233
chr6:51958498 T
T
 C
C
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.5908+1372A>G
c.5908+1372A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51958498
chr6:51958814 T
T
 TAC
TAC
 28 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(25): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0009t0001g0103
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0047t0019g0015
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0008c0018t0020g0074
a0009c0087t0001g0111
a0011c0017t0005g0071
a0018c0052t0006g0086
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0039c0066t0003g0098
a0043c0063t0005g0066
a0045c0084t0006g0087
 28 HG00423.hp1
HG00741.hp1
HG01074.hp2
others(25): Show 
HG00423.hp1
HG00741.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01433.hp1
HG01952.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.5908+1054_5908+105
others(6): Show 
c.5908+1054_5908+1055dupGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51958814
chr6:51958814 T
T
 TACAC
TACAC
 70 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(67): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0039t0001g0030
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0015c0025t0001g0031
a0017c0089t0002g0116
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
 70 HG00423.hp2
HG00741.hp2
HG01071.hp1
others(67): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+1052_5908+105
others(8): Show 
c.5908+1052_5908+1055dupGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51958814
chr6:51958814 T
T
 TACACAC
TACACAC
 10 a0001c0002t0001g0117
a0001c0061t0001g0064
a0001c0094t0001g0131
others(7): Show 
a0001c0002t0001g0117
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0004t0004g0115
a0006c0011t0005g0063
a0011c0017t0005g0080
a0014c0024t0001g0004
a0037c0060t0005g0022
a0046c0067t0003g0112
a0048c0023t0017g0081
 10 HG00738.hp2
HG01074.hp1
HG02622.hp1
others(7): Show 
HG00738.hp2
HG01074.hp1
HG02622.hp1
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG03453.hp1
HG03540.hp1
HG03669.hp1
NA19090.hp2
 intron_variant MODIFIER c.5908+1050_5908+105
others(10): Show 
c.5908+1050_5908+1055dupGTGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51958814
chr6:51959029 C
C
 T
T
 61 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(58): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 61 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(58): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+841G>A
c.5908+841G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51959029
chr6:51959078 A
A
 G
G
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.5908+792T>C
c.5908+792T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51959078
chr6:51959219 T
T
 C
C
 61 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(58): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 61 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(58): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5908+651A>G
c.5908+651A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51959219
chr6:51959399 T
T
 A
A
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.5908+471A>T
c.5908+471A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51959399
chr6:51959406 G
G
 A
A
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.5908+464C>T
c.5908+464C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 36/66 chr6 51959406
chr6:51960161 A
A
 C
C
 4 a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0130
others(1): Show 
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0130
a0003c0013t0001g0052
 4 HG02015.hp2
HG02155.hp1
NA18971.hp2
others(1): Show 
HG02015.hp2
HG02155.hp1
NA18971.hp2
NA19005.hp2
 intron_variant MODIFIER c.5752-135T>G
c.5752-135T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51960161
chr6:51960272 G
G
 A
A
 6 a0024c0068t0001g0091
a0028c0071t0012g0093
a0029c0070t0008g0090
others(3): Show 
a0024c0068t0001g0091
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0043c0063t0005g0066
 6 HG00741.hp1
HG01175.hp1
HG02896.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02896.hp1
HG03225.hp2
HG03471.hp2
NA20300.hp1
 intron_variant MODIFIER c.5752-246C>T
c.5752-246C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51960272
chr6:51960357 T
T
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5752-331A>T
c.5752-331A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51960357
chr6:51960487 C
C
 G
G
 61 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(58): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0038t0001g0034
a0008c0018t0020g0074
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0031c0057t0013g0067
a0033c0059t0008g0001
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0043c0063t0005g0066
 61 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(58): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-461G>C
c.5752-461G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51960487
chr6:51960824 T
T
 C
C
 49 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(46): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0064t0003g0053
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0017c0089t0002g0116
a0021c0045t0001g0036
a0023c0044t0001g0044
a0036c0074t0003g0108
a0040c0081t0001g0124
 49 HG00738.hp2
HG00741.hp2
HG01081.hp1
others(46): Show 
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-798A>G
c.5752-798A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51960824
chr6:51960919 A
A
 C
C
 14 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(11): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0003c0048t0001g0047
a0004c0047t0019g0015
a0005c0039t0001g0030
a0005c0040t0001g0029
a0009c0087t0001g0111
a0018c0052t0006g0086
a0048c0023t0017g0081
 14 HG01074.hp2
HG01243.hp1
HG01433.hp1
others(11): Show 
HG01074.hp2
HG01243.hp1
HG01433.hp1
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02818.hp2
HG02965.hp1
HG03139.hp1
HG03453.hp1
NA18988.hp1
NA19054.hp2
NA20129.hp1
 intron_variant MODIFIER c.5752-893T>G
c.5752-893T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51960919
chr6:51960968 C
C
 T
T
 6 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
others(3): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0061t0001g0064
a0018c0052t0006g0086
a0041c0088t0006g0114
a0048c0023t0017g0081
 6 HG02280.hp1
HG02451.hp1
HG02622.hp1
others(3): Show 
HG02280.hp1
HG02451.hp1
HG02622.hp1
HG02965.hp1
HG03139.hp1
HG03453.hp1
 intron_variant MODIFIER c.5752-942G>A
c.5752-942G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51960968
chr6:51961380 A
A
 G
G
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.5752-1354T>C
c.5752-1354T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961380
chr6:51961394 C
C
 T
T
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0065t0007g0068
a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0065t0007g0068
 3 HG02896.hp2
HG02897.hp1
HG03453.hp2
HG02896.hp2
HG02897.hp1
HG03453.hp2
 intron_variant MODIFIER c.5752-1368G>A
c.5752-1368G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961394
chr6:51961416 G
G
 A
A
 49 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
others(46): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0022t0001g0129
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0012t0001g0025
a0003c0015t0001g0039
a0003c0041t0001g0046
a0004c0006t0003g0040
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0017c0089t0002g0116
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0029c0070t0008g0090
a0033c0059t0008g0001
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0044c0075t0001g0119
 49 HG00738.hp2
HG01071.hp1
HG01175.hp1
others(46): Show 
HG00738.hp2
HG01071.hp1
HG01175.hp1
HG01243.hp2
HG01261.hp1
HG02040.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp2
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-1390C>T
c.5752-1390C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961416
chr6:51961483 G
G
 A
A
 27 a0001c0001t0001g0060
a0001c0009t0001g0123
a0001c0019t0001g0097
others(24): Show 
a0001c0001t0001g0060
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0132
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0091t0007g0133
a0003c0007t0001g0049
a0003c0013t0001g0052
a0003c0013t0001g0054
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0014t0004g0024
a0004c0047t0019g0015
a0005c0037t0001g0038
a0008c0018t0020g0074
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0012c0029t0002g0010
a0016c0090t0001g0120
a0022c0042t0002g0051
a0023c0044t0001g0044
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
 27 HG00738.hp1
HG01081.hp1
HG01081.hp2
others(24): Show 
HG00738.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01243.hp1
HG01261.hp2
HG01952.hp1
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03239.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG04204.hp2
HG04228.hp1
NA18971.hp2
NA19005.hp2
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-1457C>T
c.5752-1457C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961483
chr6:51961536 A
A
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-1510T>C
c.5752-1510T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961536
chr6:51961629 T
T
 C
C
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.5752-1603A>G
c.5752-1603A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961629
chr6:51961737 G
G
 A
A
 2 a0036c0074t0003g0108
a0046c0067t0003g0112
a0036c0074t0003g0108
a0046c0067t0003g0112
 2 HG01074.hp1
HG01106.hp2
HG01074.hp1
HG01106.hp2
 intron_variant MODIFIER c.5752-1711C>T
c.5752-1711C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961737
chr6:51961773 A
A
 G
G
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.5752-1747T>C
c.5752-1747T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961773
chr6:51961908 T
T
 C
C
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.5752-1882A>G
c.5752-1882A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961908
chr6:51961977 A
A
 G
G
 8 a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0061t0001g0064
others(5): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0061t0001g0064
a0001c0083t0001g0125
a0029c0070t0008g0090
a0037c0060t0005g0022
a0043c0063t0005g0066
a0048c0023t0017g0081
 8 HG01175.hp1
HG02257.hp2
HG02451.hp1
others(5): Show 
HG01175.hp1
HG02257.hp2
HG02451.hp1
HG02622.hp1
HG02922.hp1
HG03453.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-1951T>C
c.5752-1951T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961977
chr6:51961984 T
T
 C
C
 116 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(113): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 116 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(113): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-1958A>G
c.5752-1958A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51961984
chr6:51962089 A
A
 G
G
 6 a0001c0001t0001g0058
a0001c0061t0001g0064
a0001c0083t0001g0125
others(3): Show 
a0001c0001t0001g0058
a0001c0061t0001g0064
a0001c0083t0001g0125
a0037c0060t0005g0022
a0043c0063t0005g0066
a0048c0023t0017g0081
 6 HG02257.hp2
HG02622.hp1
HG02922.hp1
others(3): Show 
HG02257.hp2
HG02622.hp1
HG02922.hp1
HG03453.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-2063T>C
c.5752-2063T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51962089
chr6:51962178 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.5752-2152T>C
c.5752-2152T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51962178
chr6:51962339 T
T
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-2313A>G
c.5752-2313A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51962339
chr6:51962341 T
T
 C
C
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.5752-2315A>G
c.5752-2315A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51962341
chr6:51962559 T
T
 C
C
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.5752-2533A>G
c.5752-2533A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51962559
chr6:51962729 C
C
 A
A
 2 a0002c0079t0007g0089
a0045c0084t0006g0087
a0002c0079t0007g0089
a0045c0084t0006g0087
 2 HG01255.hp1
HG03041.hp1
HG01255.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-2703G>T
c.5752-2703G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51962729
chr6:51963680 T
T
 C
C
 80 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(77): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0026c0073t0005g0094
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0046c0067t0003g0112
a0048c0023t0017g0081
 80 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(77): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-3654A>G
c.5752-3654A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51963680
chr6:51963770 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-3744A>G
c.5752-3744A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51963770
chr6:51963861 T
T
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.5752-3835A>G
c.5752-3835A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51963861
chr6:51963962 T
T
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-3936A>G
c.5752-3936A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51963962
chr6:51964020 G
G
 T
T
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.5752-3994C>A
c.5752-3994C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51964020
chr6:51964415 T
T
 A
A
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.5752-4389A>T
c.5752-4389A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51964415
chr6:51964544 T
T
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.5752-4518A>C
c.5752-4518A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51964544
chr6:51964772 C
C
 T
T
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.5752-4746G>A
c.5752-4746G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51964772
chr6:51964909 C
C
 T
T
 13 a0001c0019t0001g0118
a0002c0031t0003g0014
a0003c0012t0001g0032
others(10): Show 
a0001c0019t0001g0118
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
 13 HG00423.hp2
HG02015.hp1
HG04184.hp2
others(10): Show 
HG00423.hp2
HG02015.hp1
HG04184.hp2
HG04204.hp2
NA18964.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-4883G>A
c.5752-4883G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51964909
chr6:51964925 G
G
 A
A
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5752-4899C>T
c.5752-4899C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51964925
chr6:51964970 A
A
 AT
AT
 6 a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0004t0003g0126
others(3): Show 
a0001c0009t0001g0106
a0001c0034t0001g0016
a0002c0004t0003g0126
a0002c0077t0002g0102
a0036c0074t0003g0108
a0044c0075t0001g0119
 6 HG01106.hp2
HG01255.hp2
HG01261.hp1
others(3): Show 
HG01106.hp2
HG01255.hp2
HG01261.hp1
HG02040.hp1
HG03239.hp1
NA19007.hp2
 intron_variant MODIFIER c.5752-4945dupA
c.5752-4945dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51964970
chr6:51965092 T
T
 A
A
 94 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(91): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 94 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(91): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-5066A>T
c.5752-5066A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51965092
chr6:51965141 G
G
 A
A
 13 a0001c0019t0001g0118
a0002c0031t0003g0014
a0003c0012t0001g0032
others(10): Show 
a0001c0019t0001g0118
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
 13 HG00423.hp2
HG02015.hp1
HG04184.hp2
others(10): Show 
HG00423.hp2
HG02015.hp1
HG04184.hp2
HG04204.hp2
NA18964.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-5115C>T
c.5752-5115C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51965141
chr6:51965158 G
G
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5752-5132C>T
c.5752-5132C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51965158
chr6:51965647 T
T
 C
C
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.5752-5621A>G
c.5752-5621A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51965647
chr6:51965927 T
T
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-5901A>T
c.5752-5901A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51965927
chr6:51965963 A
A
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.5752-5937T>C
c.5752-5937T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51965963
chr6:51966219 T
T
 C
C
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.5752-6193A>G
c.5752-6193A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966219
chr6:51966437 G
G
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-6411C>T
c.5752-6411C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966437
chr6:51966722 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5752-6696G>A
c.5752-6696G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966722
chr6:51966785 A
A
 G
G
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.5752-6759T>C
c.5752-6759T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966785
chr6:51966885 T
T
 TGATTG
TGATTG
 17 a0001c0001t0001g0062
a0001c0002t0009g0099
a0001c0002t0009g0100
others(14): Show 
a0001c0001t0001g0062
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0118
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0045c0084t0006g0087
 17 HG00423.hp2
HG02015.hp1
HG02896.hp2
others(14): Show 
HG00423.hp2
HG02015.hp1
HG02896.hp2
HG02897.hp1
HG03041.hp1
HG03225.hp1
HG04184.hp2
HG04204.hp2
NA18964.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-6864_5752-686
others(9): Show 
c.5752-6864_5752-6860dupCAATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966885
chr6:51966885 T
T
 TGATTGGA
others(3): Show 
TGATTGGATTG
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0002c0005t0004g0076
a0006c0011t0005g0134
a0018c0052t0006g0086
a0047c0051t0004g0056
 7 HG02922.hp2
HG02976.hp1
HG03139.hp1
others(4): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp1
HG03139.hp2
HG04184.hp1
HG04228.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-6869_5752-686
others(14): Show 
c.5752-6869_5752-6860dupCAATCCAATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966885
chr6:51966885 T
T
 TGATTGGA
others(8): Show 
TGATTGGATTGGATTG
 5 a0001c0001t0001g0061
a0024c0068t0001g0091
a0025c0072t0001g0095
others(2): Show 
a0001c0001t0001g0061
a0024c0068t0001g0091
a0025c0072t0001g0095
a0028c0071t0012g0093
a0042c0035t0006g0059
 5 HG00741.hp1
HG02451.hp1
HG02970.hp1
others(2): Show 
HG00741.hp1
HG02451.hp1
HG02970.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-6874_5752-686
others(19): Show 
c.5752-6874_5752-6860dupCAATCCAATCCAATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966885
chr6:51966885 T
T
 TGATTGGA
others(13): Show 
TGATTGGATTGGATTGGATTG
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.5752-6879_5752-686
others(24): Show 
c.5752-6879_5752-6860dupCAATCCAATCCAATCCAATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966885
chr6:51966885 TGATTG
TGATTG
 T
T
 6 a0002c0033t0002g0017
a0005c0038t0001g0034
a0019c0049t0001g0035
others(3): Show 
a0002c0033t0002g0017
a0005c0038t0001g0034
a0019c0049t0001g0035
a0029c0070t0008g0090
a0032c0058t0001g0070
a0038c0062t0002g0065
 6 HG01175.hp1
HG02698.hp1
HG03041.hp2
others(3): Show 
HG01175.hp1
HG02698.hp1
HG03041.hp2
HG03098.hp2
HG03516.hp1
NA18747.hp2
 intron_variant MODIFIER c.5752-6864_5752-686
others(9): Show 
c.5752-6864_5752-6860delCAATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966885
chr6:51966885 TGATTGGA
others(3): Show 
TGATTGGATTG
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-6869_5752-686
others(14): Show 
c.5752-6869_5752-6860delCAATCCAATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966885
chr6:51966885 TGATTGGA
others(8): Show 
TGATTGGATTGGATTG
 T
T
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.5752-6874_5752-686
others(19): Show 
c.5752-6874_5752-6860delCAATCCAATCCAATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966885
chr6:51966917 A
A
 T
T
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.5752-6891T>A
c.5752-6891T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51966917
chr6:51967143 GA
GA
 G
G
 5 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
others(2): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0004c0008t0003g0003
a0023c0044t0001g0044
 5 HG00741.hp2
HG01175.hp2
HG01496.hp2
others(2): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp2
HG01952.hp1
NA20300.hp2
 intron_variant MODIFIER c.5752-7118delT
c.5752-7118delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967143
chr6:51967223 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5752-7197A>G
c.5752-7197A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967223
chr6:51967230 C
C
 T
T
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.5752-7204G>A
c.5752-7204G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967230
chr6:51967352 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-7326C>T
c.5752-7326C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967352
chr6:51967638 TTG
TTG
 T
T
 13 a0001c0019t0001g0118
a0002c0031t0003g0014
a0003c0012t0001g0032
others(10): Show 
a0001c0019t0001g0118
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
 13 HG00423.hp2
HG02015.hp1
HG04184.hp2
others(10): Show 
HG00423.hp2
HG02015.hp1
HG04184.hp2
HG04204.hp2
NA18964.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-7614_5752-761
others(6): Show 
c.5752-7614_5752-7613delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967638
chr6:51967650 GTGTA
GTGTA
 G
G
 2 a0006c0011t0005g0134
a0045c0084t0006g0087
a0006c0011t0005g0134
a0045c0084t0006g0087
 2 HG03041.hp1
NA19240.hp1
HG03041.hp1
NA19240.hp1
 intron_variant MODIFIER c.5752-7628_5752-762
others(8): Show 
c.5752-7628_5752-7625delTACA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967650
chr6:51967652 GTA
GTA
 G
G
 2 a0001c0010t0001g0077
a0002c0079t0007g0089
a0001c0010t0001g0077
a0002c0079t0007g0089
 2 HG01255.hp1
HG02976.hp1
HG01255.hp1
HG02976.hp1
 intron_variant MODIFIER c.5752-7628_5752-762
others(6): Show 
c.5752-7628_5752-7627delTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967652
chr6:51967654 A
A
 ATG
ATG
 18 a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0005t0002g0018
others(15): Show 
a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0005t0002g0018
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0064t0003g0053
a0006c0011t0005g0063
a0015c0025t0001g0031
a0021c0045t0001g0036
 18 HG01071.hp2
HG01081.hp1
HG01261.hp2
others(15): Show 
HG01071.hp2
HG01081.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG02055.hp1
HG02055.hp2
HG02486.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG03516.hp2
HG03669.hp2
HG04204.hp1
NA18747.hp1
NA19240.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-7630_5752-762
others(6): Show 
c.5752-7630_5752-7629dupCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967654
chr6:51967654 A
A
 G
G
 2 a0001c0010t0001g0078
a0047c0051t0004g0056
a0001c0010t0001g0078
a0047c0051t0004g0056
 2 HG02922.hp2
HG03139.hp2
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.5752-7628T>C
c.5752-7628T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967654
chr6:51967654 ATG
ATG
 A
A
 31 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0061
others(28): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0061
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0094t0001g0131
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0046t0002g0050
a0004c0047t0019g0015
a0014c0024t0001g0004
a0020c0050t0001g0023
a0022c0042t0002g0051
a0023c0044t0001g0044
a0026c0073t0005g0094
a0034c0085t0004g0096
a0035c0086t0001g0109
a0042c0035t0006g0059
a0046c0067t0003g0112
 31 HG00423.hp1
HG00738.hp1
HG00741.hp2
others(28): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01074.hp1
HG01175.hp2
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02155.hp1
HG02257.hp1
HG02451.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02970.hp1
HG03239.hp2
HG03669.hp1
HG03704.hp2
HG04228.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA20300.hp2
 intron_variant MODIFIER c.5752-7630_5752-762
others(6): Show 
c.5752-7630_5752-7629delCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967654
chr6:51967696 C
C
 T
T
 30 a0002c0005t0002g0018
a0003c0007t0001g0037
a0003c0007t0001g0043
others(27): Show 
a0002c0005t0002g0018
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 30 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(27): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-7670G>A
c.5752-7670G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967696
chr6:51967712 T
T
 TAC
TAC
 3 a0018c0052t0006g0086
a0032c0058t0001g0070
a0041c0088t0006g0114
a0018c0052t0006g0086
a0032c0058t0001g0070
a0041c0088t0006g0114
 3 HG02280.hp1
HG03139.hp1
HG03516.hp1
HG02280.hp1
HG03139.hp1
HG03516.hp1
 intron_variant MODIFIER c.5752-7688_5752-768
others(6): Show 
c.5752-7688_5752-7687dupGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967712
chr6:51967776 A
A
 G
G
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.5752-7750T>C
c.5752-7750T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51967776
chr6:51968251 A
A
 G
G
 91 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(88): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 91 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(88): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-8225T>C
c.5752-8225T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51968251
chr6:51968437 T
T
 A
A
 132 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(129): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 132 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(129): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-8411A>T
c.5752-8411A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51968437
chr6:51968557 A
A
 G
G
 12 a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
others(9): Show 
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0045c0084t0006g0087
a0047c0051t0004g0056
 12 HG00741.hp1
HG01255.hp1
HG02897.hp2
others(9): Show 
HG00741.hp1
HG01255.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-8531T>C
c.5752-8531T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51968557
chr6:51968568 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-8542G>A
c.5752-8542G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51968568
chr6:51968588 C
C
 G
G
 3 a0001c0061t0001g0064
a0043c0063t0005g0066
a0048c0023t0017g0081
a0001c0061t0001g0064
a0043c0063t0005g0066
a0048c0023t0017g0081
 3 HG02622.hp1
HG03453.hp1
NA20300.hp1
HG02622.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-8562G>C
c.5752-8562G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51968588
chr6:51969218 C
C
 A
A
 2 a0001c0001t0001g0058
a0037c0060t0005g0022
a0001c0001t0001g0058
a0037c0060t0005g0022
 2 HG02257.hp2
HG02922.hp1
HG02257.hp2
HG02922.hp1
 intron_variant MODIFIER c.5752-9192G>T
c.5752-9192G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969218
chr6:51969222 C
C
 A
A
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-9196G>T
c.5752-9196G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969222
chr6:51969237 T
T
 C
C
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.5752-9211A>G
c.5752-9211A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969237
chr6:51969240 A
A
 G
G
 91 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(88): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 91 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(88): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-9214T>C
c.5752-9214T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969240
chr6:51969250 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-9224G>T
c.5752-9224G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969250
chr6:51969411 T
T
 A
A
 3 a0004c0006t0003g0040
a0009c0054t0001g0082
a0011c0017t0005g0080
a0004c0006t0003g0040
a0009c0054t0001g0082
a0011c0017t0005g0080
 3 HG02976.hp2
HG03540.hp1
HG04228.hp1
HG02976.hp2
HG03540.hp1
HG04228.hp1
 intron_variant MODIFIER c.5752-9385A>T
c.5752-9385A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969411
chr6:51969482 G
G
 A
A
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-9456C>T
c.5752-9456C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969482
chr6:51969496 C
C
 T
T
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.5752-9470G>A
c.5752-9470G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969496
chr6:51969499 A
A
 G
G
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-9473T>C
c.5752-9473T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969499
chr6:51969788 C
C
 CAT
CAT
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
 3 HG01496.hp1
HG04184.hp1
HG04228.hp2
HG01496.hp1
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-9764_5752-976
others(6): Show 
c.5752-9764_5752-9763dupAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969788
chr6:51969916 T
T
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.5752-9890A>G
c.5752-9890A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969916
chr6:51969920 A
A
 G
G
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-9894T>C
c.5752-9894T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51969920
chr6:51970174 T
T
 C
C
 13 a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
others(10): Show 
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
a0002c0079t0007g0089
a0006c0011t0005g0134
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0045c0084t0006g0087
a0047c0051t0004g0056
 13 HG00741.hp1
HG01255.hp1
HG02897.hp2
others(10): Show 
HG00741.hp1
HG01255.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-10148A>G
c.5752-10148A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51970174
chr6:51970469 C
C
 T
T
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-10443G>A
c.5752-10443G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51970469
chr6:51970507 G
G
 C
C
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.5752-10481C>G
c.5752-10481C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51970507
chr6:51970538 A
A
 G
G
 1 a0007c0003t0001g0008
a0007c0003t0001g0008
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.5752-10512T>C
c.5752-10512T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51970538
chr6:51970590 C
C
 T
T
 13 a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
others(10): Show 
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
a0002c0079t0007g0089
a0006c0011t0005g0134
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0045c0084t0006g0087
a0047c0051t0004g0056
 13 HG00741.hp1
HG01255.hp1
HG02897.hp2
others(10): Show 
HG00741.hp1
HG01255.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-10564G>A
c.5752-10564G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51970590
chr6:51970686 C
C
 A
A
 92 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(89): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 92 HG00423.hp2
HG00738.hp1
HG00741.hp1
others(89): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-10660G>T
c.5752-10660G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51970686
chr6:51970738 T
T
 C
C
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.5752-10712A>G
c.5752-10712A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51970738
chr6:51971109 T
T
 C
C
 1 a0004c0014t0004g0024
a0004c0014t0004g0024
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.5752-11083A>G
c.5752-11083A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971109
chr6:51971146 T
T
 C
C
 12 a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
others(9): Show 
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0045c0084t0006g0087
a0047c0051t0004g0056
 12 HG00741.hp1
HG01255.hp1
HG02897.hp2
others(9): Show 
HG00741.hp1
HG01255.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-11120A>G
c.5752-11120A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971146
chr6:51971698 T
T
 G
G
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.5752-11672A>C
c.5752-11672A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971698
chr6:51971708 T
T
 TTTTTGTT
others(3): Show 
TTTTTGTTTTG
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0091t0007g0133
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0091t0007g0133
 3 HG03540.hp2
HG04184.hp1
HG04228.hp2
HG03540.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-11692_5752-11
others(16): Show 
c.5752-11692_5752-11683dupCAAAACAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971708
chr6:51971708 TTTTTG
TTTTTG
 T
T
 17 a0001c0001t0001g0062
a0001c0002t0009g0099
a0001c0002t0009g0100
others(14): Show 
a0001c0001t0001g0062
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
a0002c0079t0007g0089
a0006c0011t0005g0134
a0014c0024t0001g0004
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0041c0088t0006g0114
a0045c0084t0006g0087
a0047c0051t0004g0056
 17 HG00741.hp1
HG01255.hp1
HG02280.hp1
others(14): Show 
HG00741.hp1
HG01255.hp1
HG02280.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03669.hp1
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-11687_5752-11
others(11): Show 
c.5752-11687_5752-11683delCAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971708
chr6:51971708 TTTTTGTT
others(3): Show 
TTTTTGTTTTG
 T
T
 75 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(72): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0026c0073t0005g0094
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0046c0067t0003g0112
a0048c0023t0017g0081
 75 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(72): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-11692_5752-11
others(16): Show 
c.5752-11692_5752-11683delCAAAACAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971708
chr6:51971708 TTTTTGTT
others(8): Show 
TTTTTGTTTTGTTTTG
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5752-11697_5752-11
others(21): Show 
c.5752-11697_5752-11683delCAAAACAAAACAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971708
chr6:51971758 G
G
 T
T
 1 a0012c0027t0002g0005
a0012c0027t0002g0005
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.5752-11732C>A
c.5752-11732C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971758
chr6:51971930 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-11904G>A
c.5752-11904G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51971930
chr6:51972302 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-12276G>A
c.5752-12276G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51972302
chr6:51972308 A
A
 G
G
 6 a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
others(3): Show 
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
 6 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(3): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.5752-12282T>C
c.5752-12282T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51972308
chr6:51972567 C
C
 T
T
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-12541G>A
c.5752-12541G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51972567
chr6:51972746 C
C
 T
T
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-12720G>A
c.5752-12720G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51972746
chr6:51972765 C
C
 T
T
 4 a0005c0038t0001g0034
a0019c0049t0001g0035
a0032c0058t0001g0070
others(1): Show 
a0005c0038t0001g0034
a0019c0049t0001g0035
a0032c0058t0001g0070
a0038c0062t0002g0065
 4 HG02698.hp1
HG03041.hp2
HG03098.hp2
others(1): Show 
HG02698.hp1
HG03041.hp2
HG03098.hp2
HG03516.hp1
 intron_variant MODIFIER c.5752-12739G>A
c.5752-12739G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51972765
chr6:51973328 C
C
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-13302G>T
c.5752-13302G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51973328
chr6:51973465 A
A
 G
G
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-13439T>C
c.5752-13439T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51973465
chr6:51973491 T
T
 A
A
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.5752-13465A>T
c.5752-13465A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51973491
chr6:51973574 T
T
 C
C
 62 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(59): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0076t0005g0088
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0026c0073t0005g0094
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
a0046c0067t0003g0112
a0048c0023t0017g0081
 62 HG00738.hp1
HG00741.hp2
HG01071.hp1
others(59): Show 
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-13548A>G
c.5752-13548A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51973574
chr6:51973594 A
A
 C
C
 4 a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
others(1): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 4 HG00741.hp1
HG02897.hp2
HG03225.hp2
others(1): Show 
HG00741.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-13568T>G
c.5752-13568T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51973594
chr6:51973967 T
T
 C
C
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
 3 HG01496.hp1
HG04184.hp1
HG04228.hp2
HG01496.hp1
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-13941A>G
c.5752-13941A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51973967
chr6:51974020 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-13994A>G
c.5752-13994A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51974020
chr6:51974055 C
C
 T
T
 34 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(31): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
a0005c0038t0001g0034
a0006c0076t0005g0088
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0014c0024t0001g0004
a0019c0049t0001g0035
a0026c0073t0005g0094
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
a0046c0067t0003g0112
a0048c0023t0017g0081
 34 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(31): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG01175.hp1
HG01243.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
NA20300.hp1
 intron_variant MODIFIER c.5752-14029G>A
c.5752-14029G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51974055
chr6:51974450 T
T
 C
C
 2 a0003c0041t0001g0046
a0004c0064t0003g0053
a0003c0041t0001g0046
a0004c0064t0003g0053
 2 HG03669.hp2
NA20752.hp2
HG03669.hp2
NA20752.hp2
 intron_variant MODIFIER c.5752-14424A>G
c.5752-14424A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51974450
chr6:51974677 G
G
 A
A
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-14651C>T
c.5752-14651C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51974677
chr6:51974713 G
G
 A
A
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
 3 HG01496.hp1
HG04184.hp1
HG04228.hp2
HG01496.hp1
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-14687C>T
c.5752-14687C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51974713
chr6:51974744 T
T
 C
C
 13 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
others(10): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0030c0055t0002g0072
a0031c0057t0013g0067
a0033c0059t0008g0001
 13 HG01243.hp1
HG01496.hp1
HG02280.hp2
others(10): Show 
HG01243.hp1
HG01496.hp1
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-14718A>G
c.5752-14718A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51974744
chr6:51974752 A
A
 C
C
 76 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(73): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0026c0073t0005g0094
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0046c0067t0003g0112
a0048c0023t0017g0081
 76 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(73): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-14726T>G
c.5752-14726T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51974752
chr6:51975020 A
A
 T
T
 92 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(89): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 92 HG00423.hp2
HG00738.hp1
HG00741.hp1
others(89): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-14994T>A
c.5752-14994T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975020
chr6:51975023 G
G
 A
A
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.5752-14997C>T
c.5752-14997C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975023
chr6:51975151 A
A
 AAGAT
AAGAT
 4 a0001c0061t0001g0064
a0006c0076t0005g0088
a0043c0063t0005g0066
others(1): Show 
a0001c0061t0001g0064
a0006c0076t0005g0088
a0043c0063t0005g0066
a0048c0023t0017g0081
 4 HG02486.hp1
HG02622.hp1
HG03453.hp1
others(1): Show 
HG02486.hp1
HG02622.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-15129_5752-15
others(10): Show 
c.5752-15129_5752-15126dupATCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975151
chr6:51975317 T
T
 G
G
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0036t0001g0042
 3 HG01496.hp1
HG04184.hp1
HG04228.hp2
HG01496.hp1
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-15291A>C
c.5752-15291A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975317
chr6:51975517 T
T
 C
C
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-15491A>G
c.5752-15491A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975517
chr6:51975626 T
T
 TA
TA
 9 a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0117
others(6): Show 
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0117
a0001c0082t0001g0105
a0002c0020t0008g0110
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 9 HG00738.hp2
HG00741.hp1
HG02897.hp2
others(6): Show 
HG00738.hp2
HG00741.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG06807.hp2
 intron_variant MODIFIER c.5752-15601dupT
c.5752-15601dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975626
chr6:51975626 T
T
 TAA
TAA
 30 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(27): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
a0005c0038t0001g0034
a0006c0076t0005g0088
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0080
a0014c0024t0001g0004
a0019c0049t0001g0035
a0026c0073t0005g0094
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0038c0062t0002g0065
a0043c0063t0005g0066
a0046c0067t0003g0112
 30 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(27): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG01175.hp1
HG01243.hp1
HG02055.hp2
HG02155.hp1
HG02486.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
NA20300.hp1
 intron_variant MODIFIER c.5752-15602_5752-15
others(8): Show 
c.5752-15602_5752-15601dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975626
chr6:51975626 T
T
 TAAA
TAAA
 30 a0001c0001t0001g0058
a0001c0001t0001g0061
a0003c0007t0001g0043
others(27): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0011c0017t0005g0071
a0015c0025t0001g0031
a0020c0050t0001g0023
a0022c0042t0002g0051
a0023c0044t0001g0044
a0037c0060t0005g0022
a0048c0023t0017g0081
 30 HG01071.hp2
HG01081.hp1
HG01175.hp2
others(27): Show 
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02922.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-15603_5752-15
others(9): Show 
c.5752-15603_5752-15601dupTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975626
chr6:51975626 T
T
 TAAAA
TAAAA
 13 a0002c0031t0003g0014
a0003c0007t0001g0037
a0004c0008t0011g0026
others(10): Show 
a0002c0031t0003g0014
a0003c0007t0001g0037
a0004c0008t0011g0026
a0004c0014t0004g0033
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0029t0002g0010
a0021c0045t0001g0036
a0042c0035t0006g0059
 13 HG00741.hp2
HG01433.hp2
HG02015.hp1
others(10): Show 
HG00741.hp2
HG01433.hp2
HG02015.hp1
HG02970.hp1
HG04184.hp2
HG04204.hp2
NA18964.hp2
NA18975.hp2
NA18989.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-15604_5752-15
others(10): Show 
c.5752-15604_5752-15601dupTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975626
chr6:51975642 C
C
 A
A
 17 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0049
others(14): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0049
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0003g0040
a0004c0043t0015g0057
a0004c0064t0003g0053
a0006c0011t0005g0134
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0047c0051t0004g0056
 17 HG01071.hp2
HG01261.hp2
HG02055.hp1
others(14): Show 
HG01071.hp2
HG01261.hp2
HG02055.hp1
HG02280.hp2
HG02486.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp2
HG03486.hp1
HG03669.hp2
HG04228.hp1
NA19240.hp1
NA20752.hp2
 intron_variant MODIFIER c.5752-15616G>T
c.5752-15616G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975642
chr6:51975642 C
C
 G
G
 2 a0002c0079t0007g0089
a0045c0084t0006g0087
a0002c0079t0007g0089
a0045c0084t0006g0087
 2 HG01255.hp1
HG03041.hp1
HG01255.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-15616G>C
c.5752-15616G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975642
chr6:51975890 GAGT
GAGT
 G
G
 12 a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
others(9): Show 
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0045c0084t0006g0087
a0047c0051t0004g0056
 12 HG00741.hp1
HG01255.hp1
HG02897.hp2
others(9): Show 
HG00741.hp1
HG01255.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-15867_5752-15
others(9): Show 
c.5752-15867_5752-15865delACT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975890
chr6:51975963 T
T
 TGA
TGA
 5 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(2): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0045c0084t0006g0087
a0047c0051t0004g0056
 5 HG01255.hp1
HG02922.hp2
HG02976.hp1
others(2): Show 
HG01255.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
 intron_variant MODIFIER c.5752-15938_5752-15
others(8): Show 
c.5752-15938_5752-15937insTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 T
T
 TGAA
TGAA
 2 a0006c0011t0005g0134
a0018c0052t0006g0086
a0006c0011t0005g0134
a0018c0052t0006g0086
 2 HG03139.hp1
NA19240.hp1
HG03139.hp1
NA19240.hp1
 intron_variant MODIFIER c.5752-15938_5752-15
others(9): Show 
c.5752-15938_5752-15937insTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 T
T
 TGAAAAAA
others(1): Show 
TGAAAAAAA
 3 a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 3 HG00741.hp1
HG02897.hp2
HG06807.hp2
HG00741.hp1
HG02897.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-15938_5752-15
others(14): Show 
c.5752-15938_5752-15937insTTTTTTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 TA
TA
 T
T
 34 a0001c0001t0001g0058
a0001c0022t0001g0129
a0001c0022t0001g0132
others(31): Show 
a0001c0001t0001g0058
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0076t0005g0088
a0007c0003t0001g0008
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0029c0070t0008g0090
a0043c0063t0005g0066
a0046c0067t0003g0112
 34 HG00738.hp1
HG00741.hp2
HG01071.hp1
others(31): Show 
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01433.hp2
HG01496.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02698.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG03669.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18971.hp2
NA19003.hp2
NA19005.hp1
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-15938delT
c.5752-15938delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 TAA
TAA
 T
T
 22 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0061
others(19): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0061
a0001c0094t0001g0131
a0002c0031t0003g0014
a0002c0033t0002g0017
a0003c0012t0001g0032
a0004c0014t0004g0033
a0005c0038t0001g0034
a0007c0003t0001g0006
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0026c0073t0005g0094
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
 22 HG00423.hp2
HG02015.hp1
HG02451.hp1
others(19): Show 
HG00423.hp2
HG02015.hp1
HG02451.hp1
HG02717.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03471.hp2
HG03516.hp1
HG04204.hp2
NA18747.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19054.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-15939_5752-15
others(8): Show 
c.5752-15939_5752-15938delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 TAAA
TAAA
 T
T
 8 a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
others(5): Show 
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0030c0055t0002g0072
a0031c0057t0013g0067
 8 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(5): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.5752-15940_5752-15
others(9): Show 
c.5752-15940_5752-15938delTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 TAAAAAAA
others(3): Show 
TAAAAAAAAAA
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-15947_5752-15
others(16): Show 
c.5752-15947_5752-15938delTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5752-15949_5752-15
others(18): Show 
c.5752-15949_5752-15938delTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975963 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5752-15950_5752-15
others(19): Show 
c.5752-15950_5752-15938delTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975963
chr6:51975964 A
A
 G
G
 9 a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0041
others(6): Show 
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0015t0001g0041
a0003c0048t0001g0047
a0004c0006t0002g0055
a0004c0008t0004g0045
a0020c0050t0001g0023
a0023c0044t0001g0044
a0048c0023t0017g0081
 9 HG01175.hp2
HG01261.hp2
HG01952.hp1
others(6): Show 
HG01175.hp2
HG01261.hp2
HG01952.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG03516.hp2
NA19001.hp2
NA20300.hp2
 intron_variant MODIFIER c.5752-15938T>C
c.5752-15938T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975964
chr6:51975965 A
A
 G
G
 34 a0001c0001t0001g0058
a0001c0022t0001g0129
a0001c0022t0001g0132
others(31): Show 
a0001c0001t0001g0058
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0076t0005g0088
a0007c0003t0001g0008
a0010c0030t0001g0007
a0014c0024t0001g0004
a0015c0025t0001g0031
a0019c0049t0001g0035
a0021c0045t0001g0036
a0022c0042t0002g0051
a0029c0070t0008g0090
a0043c0063t0005g0066
a0046c0067t0003g0112
 34 HG00738.hp1
HG00741.hp2
HG01071.hp1
others(31): Show 
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01433.hp2
HG01496.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02698.hp1
HG03239.hp2
HG03453.hp1
HG03669.hp1
HG03669.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18971.hp2
NA19003.hp2
NA19005.hp1
NA19090.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-15939T>C
c.5752-15939T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975965
chr6:51975966 A
A
 G
G
 22 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0061
others(19): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0061
a0001c0094t0001g0131
a0002c0031t0003g0014
a0002c0033t0002g0017
a0003c0012t0001g0032
a0004c0014t0004g0033
a0005c0038t0001g0034
a0007c0003t0001g0006
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0026c0073t0005g0094
a0032c0058t0001g0070
a0033c0059t0008g0001
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
 22 HG00423.hp2
HG02015.hp1
HG02451.hp1
others(19): Show 
HG00423.hp2
HG02015.hp1
HG02451.hp1
HG02717.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03471.hp2
HG03516.hp1
HG04204.hp2
NA18747.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19054.hp2
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-15940T>C
c.5752-15940T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975966
chr6:51975967 A
A
 G
G
 8 a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
others(5): Show 
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0011c0017t0005g0071
a0011c0017t0005g0080
a0030c0055t0002g0072
a0031c0057t0013g0067
 8 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(5): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.5752-15941T>C
c.5752-15941T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975967
chr6:51975973 A
A
 G
G
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.5752-15947T>C
c.5752-15947T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975973
chr6:51975974 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-15948T>C
c.5752-15948T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975974
chr6:51975977 A
A
 G
G
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5752-15951T>C
c.5752-15951T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51975977
chr6:51976133 A
A
 G
G
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.5752-16107T>C
c.5752-16107T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976133
chr6:51976573 C
C
 T
T
 14 a0001c0001t0001g0061
a0002c0031t0003g0014
a0003c0012t0001g0032
others(11): Show 
a0001c0001t0001g0061
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0042c0035t0006g0059
 14 HG00423.hp2
HG02015.hp1
HG02451.hp1
others(11): Show 
HG00423.hp2
HG02015.hp1
HG02451.hp1
HG02970.hp1
HG04184.hp2
HG04204.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-16547G>A
c.5752-16547G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976573
chr6:51976596 T
T
 C
C
 4 a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
others(1): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 4 HG00741.hp1
HG02897.hp2
HG03225.hp2
others(1): Show 
HG00741.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-16570A>G
c.5752-16570A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976596
chr6:51976698 C
C
 G
G
 1 a0006c0076t0005g0088
a0006c0076t0005g0088
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.5752-16672G>C
c.5752-16672G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976698
chr6:51976944 T
T
 TA
TA
 32 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(29): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0094t0001g0131
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0036t0001g0042
a0004c0006t0002g0048
a0004c0014t0004g0033
a0004c0046t0002g0050
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0029t0002g0010
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0023c0044t0001g0044
a0030c0055t0002g0072
a0032c0058t0001g0070
a0037c0060t0005g0022
 32 HG00423.hp2
HG00741.hp2
HG01071.hp1
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp1
HG01175.hp2
HG01261.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02055.hp1
HG02155.hp1
HG02683.hp2
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG03098.hp1
HG03516.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-16919dupT
c.5752-16919dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAA
TAA
 6 a0001c0001t0001g0058
a0002c0005t0002g0018
a0010c0026t0001g0013
others(3): Show 
a0001c0001t0001g0058
a0002c0005t0002g0018
a0010c0026t0001g0013
a0012c0027t0002g0005
a0014c0024t0001g0004
a0026c0073t0005g0094
 6 HG02055.hp2
HG02257.hp2
HG02717.hp1
others(3): Show 
HG02055.hp2
HG02257.hp2
HG02717.hp1
HG03669.hp1
NA18988.hp2
NA19007.hp1
 intron_variant MODIFIER c.5752-16920_5752-16
others(8): Show 
c.5752-16920_5752-16919dupTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAA
TAAAAA
 27 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(24): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0034t0001g0016
a0002c0004t0003g0126
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 27 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(24): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01243.hp2
HG01255.hp2
HG02040.hp1
HG02040.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19007.hp2
NA19054.hp1
 intron_variant MODIFIER c.5752-16923_5752-16
others(11): Show 
c.5752-16923_5752-16919dupTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAA
TAAAAAA
 14 a0001c0001t0001g0060
a0001c0009t0001g0106
a0001c0082t0001g0105
others(11): Show 
a0001c0001t0001g0060
a0001c0009t0001g0106
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0065t0007g0068
a0002c0091t0007g0133
a0005c0037t0001g0038
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
 14 HG01106.hp1
HG01106.hp2
HG01261.hp1
others(11): Show 
HG01106.hp1
HG01106.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02155.hp2
HG02683.hp1
HG02965.hp1
HG02970.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG06807.hp1
NA19090.hp2
 intron_variant MODIFIER c.5752-16924_5752-16
others(12): Show 
c.5752-16924_5752-16919dupTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-16930_5752-16
others(18): Show 
c.5752-16930_5752-16919dupTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5752-16931_5752-16
others(19): Show 
c.5752-16931_5752-16919dupTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 2 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0010t0001g0077
a0001c0010t0001g0078
 2 HG02922.hp2
HG02976.hp1
HG02922.hp2
HG02976.hp1
 intron_variant MODIFIER c.5752-16933_5752-16
others(21): Show 
c.5752-16933_5752-16919dupTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 2 a0006c0011t0005g0134
a0047c0051t0004g0056
a0006c0011t0005g0134
a0047c0051t0004g0056
 2 HG03139.hp2
NA19240.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-16934_5752-16
others(22): Show 
c.5752-16934_5752-16919dupTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(12): Show 
TAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0001g0062
a0024c0068t0001g0091
a0025c0072t0001g0095
others(1): Show 
a0001c0001t0001g0062
a0024c0068t0001g0091
a0025c0072t0001g0095
a0028c0071t0012g0093
 4 HG00741.hp1
HG03225.hp1
HG03225.hp2
others(1): Show 
HG00741.hp1
HG03225.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-16937_5752-16
others(25): Show 
c.5752-16937_5752-16919dupTTTTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(13): Show 
TAAAAAAAAAAAAAAAAAAAA
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5752-16938_5752-16
others(26): Show 
c.5752-16938_5752-16919dupTTTTTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(15): Show 
TAAAAAAAAAAAAAAAAAAAAAA
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.5752-16919_5752-16
others(28): Show 
c.5752-16919_5752-16918insTTTTTTTTTTTTTTTTTTTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976944 T
T
 TAAAAAAA
others(20): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-16919_5752-16
others(33): Show 
c.5752-16919_5752-16918insTTTTTTTTTTTTTTTTTTTTTTTT
TTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976944
chr6:51976963 A
A
 C
C
 3 a0001c0061t0001g0064
a0006c0076t0005g0088
a0043c0063t0005g0066
a0001c0061t0001g0064
a0006c0076t0005g0088
a0043c0063t0005g0066
 3 HG02486.hp1
HG03453.hp1
NA20300.hp1
HG02486.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-16937T>G
c.5752-16937T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51976963
chr6:51977018 T
T
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-16992A>T
c.5752-16992A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51977018
chr6:51977254 CTCTGTGA
others(23): Show 
CTCTGTGAAGGGTGGGTTTGCACACCTTGTT
 C
C
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.5752-17258_5752-17
others(36): Show 
c.5752-17258_5752-17229delAACAAGGTGTGCAAACCCACCCTT
CACAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51977254
chr6:51977621 C
C
 T
T
 42 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(39): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 42 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(39): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5752-17595G>A
c.5752-17595G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51977621
chr6:51977762 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-17736G>A
c.5752-17736G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51977762
chr6:51977830 G
G
 C
C
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.5752-17804C>G
c.5752-17804C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51977830
chr6:51977994 A
A
 T
T
 45 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(42): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0003c0036t0001g0042
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 45 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(42): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5752-17968T>A
c.5752-17968T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51977994
chr6:51978069 T
T
 A
A
 4 a0001c0061t0001g0064
a0006c0076t0005g0088
a0043c0063t0005g0066
others(1): Show 
a0001c0061t0001g0064
a0006c0076t0005g0088
a0043c0063t0005g0066
a0048c0023t0017g0081
 4 HG02486.hp1
HG02622.hp1
HG03453.hp1
others(1): Show 
HG02486.hp1
HG02622.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-18043A>T
c.5752-18043A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51978069
chr6:51978390 A
A
 G
G
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.5752-18364T>C
c.5752-18364T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51978390
chr6:51978641 G
G
 C
C
 40 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(37): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 40 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(37): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5752-18615C>G
c.5752-18615C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51978641
chr6:51978744 G
G
 A
A
 29 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(26): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 29 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(26): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-18718C>T
c.5752-18718C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51978744
chr6:51978854 G
G
 A
A
 6 a0001c0001t0001g0062
a0006c0011t0005g0063
a0024c0068t0001g0091
others(3): Show 
a0001c0001t0001g0062
a0006c0011t0005g0063
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 6 HG00741.hp1
HG02809.hp2
HG02897.hp2
others(3): Show 
HG00741.hp1
HG02809.hp2
HG02897.hp2
HG03225.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-18828C>T
c.5752-18828C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51978854
chr6:51978953 CAT
CAT
 C
C
 39 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(36): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 39 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(36): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5752-18929_5752-18
others(8): Show 
c.5752-18929_5752-18928delAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51978953
chr6:51979407 C
C
 T
T
 43 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
others(40): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 43 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(40): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-19381G>A
c.5752-19381G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51979407
chr6:51979410 C
C
 T
T
 2 a0001c0001t0001g0058
a0037c0060t0005g0022
a0001c0001t0001g0058
a0037c0060t0005g0022
 2 HG02257.hp2
HG02922.hp1
HG02257.hp2
HG02922.hp1
 intron_variant MODIFIER c.5752-19384G>A
c.5752-19384G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51979410
chr6:51979570 A
A
 G
G
 129 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(126): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 129 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(126): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-19544T>C
c.5752-19544T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51979570
chr6:51979922 G
G
 T
T
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.5752-19896C>A
c.5752-19896C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51979922
chr6:51979983 A
A
 G
G
 1 a0002c0004t0003g0126
a0002c0004t0003g0126
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.5752-19957T>C
c.5752-19957T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51979983
chr6:51980098 C
C
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-20072G>A
c.5752-20072G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51980098
chr6:51980646 G
G
 C
C
 5 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0005t0002g0021
others(2): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0005t0002g0021
a0006c0011t0005g0134
a0047c0051t0004g0056
 5 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(2): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-20620C>G
c.5752-20620C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51980646
chr6:51980769 C
C
 A
A
 44 a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
others(41): Show 
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-20743G>T
c.5752-20743G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51980769
chr6:51981067 G
G
 T
T
 41 a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
others(38): Show 
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 41 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(38): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21041C>A
c.5752-21041C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981067
chr6:51981075 G
G
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-21049C>A
c.5752-21049C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981075
chr6:51981304 G
G
 GCTCCCCC
others(163): Show 
GCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCC
CTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCC
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(176): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGA
GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(176): Show 
GCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCTC
CCTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(189): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGT
ACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGG
GAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(181): Show 
GCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCC
CTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0003c0048t0001g0047
a0003c0048t0001g0047
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(194): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGG
CTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGG
AGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(175): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCTCC
CTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(188): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGT
ACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGG
AGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(165): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCTCCCTCT
CCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCC
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(178): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGA
GAGGGAGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(132): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC
TCTCCCTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0003c0041t0001g0046
a0003c0041t0001g0046
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(145): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCT
GTACCGGAGAGGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
GAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(114): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC
TCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCC
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(127): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGG
GAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(174): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC
TCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(187): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGT
ACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA
GGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(198): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC
TCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCC
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(211): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTT
GGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGA
GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(144): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CC
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(157): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCT
TTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGG
GAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(180): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 2 a0003c0007t0001g0037
a0003c0016t0001g0028
a0003c0007t0001g0037
a0003c0016t0001g0028
 2 HG00741.hp2
HG03704.hp2
HG00741.hp2
HG03704.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(193): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTA
AAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGA
GGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(192): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 3 a0004c0006t0003g0040
a0020c0050t0001g0023
a0022c0042t0002g0051
a0004c0006t0003g0040
a0020c0050t0001g0023
a0022c0042t0002g0051
 3 HG02683.hp2
HG03239.hp2
HG04228.hp1
HG02683.hp2
HG03239.hp2
HG04228.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(205): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTT
GGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGA
GGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(198): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCC
 2 a0003c0012t0001g0025
a0015c0025t0001g0031
a0003c0012t0001g0025
a0015c0025t0001g0031
 2 HG04204.hp1
NA18747.hp1
HG04204.hp1
NA18747.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(211): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGA
GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(210): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCC
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(223): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGA
GGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(216): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCC
 1 a0004c0046t0002g0050
a0004c0046t0002g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(229): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTAC
CGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(222): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 2 a0003c0016t0001g0027
a0004c0008t0003g0003
a0003c0016t0001g0027
a0004c0008t0003g0003
 2 HG01496.hp2
HG02698.hp2
HG01496.hp2
HG02698.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(235): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCT
CTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG
GGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(228): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0004c0014t0004g0024
a0004c0014t0004g0024
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(241): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAA
AGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGG
GGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(234): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0003c0015t0001g0039
a0003c0015t0001g0039
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(247): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTC
TCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGG
GGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(240): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 2 a0004c0008t0011g0026
a0023c0044t0001g0044
a0004c0008t0011g0026
a0023c0044t0001g0044
 2 HG01952.hp1
NA18964.hp2
HG01952.hp1
NA18964.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(253): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGG
AGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGG
GGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(246): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCC
 1 a0003c0013t0001g0052
a0003c0013t0001g0052
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(259): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
CTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGG
GGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(258): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCC
 1 a0003c0015t0001g0041
a0003c0015t0001g0041
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(271): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGG
GAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCCC
others(228): Show 
GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG
GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCGCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0003c0007t0001g0043
a0003c0007t0001g0043
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(241): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGCGAGAGCTTTGGAGCCTCTCTAAA
AGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGG
GGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCTC
others(177): Show 
GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(190): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCCCTC
others(219): Show 
GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0001c0032t0001g0075
a0001c0032t0001g0075
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(232): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTACC
others(245): Show 
GCTCTACCTACCTCTACCTCTACCCCTCTACCTCTACCTCTACCTCTACC
TCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTC
TACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTA
CCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACC
TCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTC
TAC
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(258): Show 
c.5752-21279_5752-21278insGTAGAGGTAGAGGTAGAGGTAGAG
GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT
AGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAG
AGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAG
GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT
AGAGGGGTAGAGGTAGAGGTAGGTAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTACC
others(321): Show 
GCTCTACCTACCTCTACCTCTACGTCTACCTCTACGTCTACCTCTACGTC
TACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTA
CCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACC
TCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTC
TACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTA
CCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACCTCTACC
TCTACCTCTACCTCTACCTCTACCTCTAC
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(334): Show 
c.5752-21279_5752-21278insGTAGAGGTAGAGGTAGAGGTAGAG
GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT
AGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAG
AGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAG
GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT
AGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAG
AGGTAGACGTAGAGGTAGACGTAGAGGTAGACGTAGAGGTAGAGGTAGGT
AGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(23): Show 
GCTCTCCCTCCCCCTCCCCCTCCCCCTCCCC
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(36): Show 
c.5752-21279_5752-21278insGGGGAGGGGGAGGGGGAGGGGGAG
GGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(153): Show 
GCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCC
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(166): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(165): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC
TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC
CCCCTCCCTCCCTCTCCCTCTCC
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(178): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGGGAGGGGG
AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(161): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCC
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(174): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(179): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(192): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(185): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(198): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(203): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCC
 1 a0027c0069t0018g0092
a0027c0069t0018g0092
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(216): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(209): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCC
 1 a0043c0063t0005g0066
a0043c0063t0005g0066
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(222): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(215): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCC
 2 a0002c0021t0004g0128
a0048c0023t0017g0081
a0002c0021t0004g0128
a0048c0023t0017g0081
 2 HG00738.hp1
HG02622.hp1
HG00738.hp1
HG02622.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(228): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(221): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 3 a0002c0079t0007g0089
a0018c0052t0006g0086
a0028c0071t0012g0093
a0002c0079t0007g0089
a0018c0052t0006g0086
a0028c0071t0012g0093
 3 HG00741.hp1
HG01255.hp1
HG03139.hp1
HG00741.hp1
HG01255.hp1
HG03139.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(234): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(233): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(246): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(239): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 2 a0006c0076t0005g0088
a0046c0067t0003g0112
a0006c0076t0005g0088
a0046c0067t0003g0112
 2 HG01074.hp1
HG02486.hp1
HG01074.hp1
HG02486.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(252): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(257): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCC
 2 a0001c0022t0001g0129
a0002c0021t0004g0130
a0001c0022t0001g0129
a0002c0021t0004g0130
 2 HG01071.hp1
HG02155.hp1
HG01071.hp1
HG02155.hp1
 intron_variant MODIFIER c.5752-21279_5752-21
others(270): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981304 G
G
 GCTCTCCC
others(173): Show 
GCTCTCCCTCTCCGTCTCCCTCTGCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.5752-21279_5752-21
others(186): Show 
c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGCAGAGGGAGACGGAGAG
GGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981304
chr6:51981307 C
C
 CTCCCCTC
others(141): Show 
CTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTC
TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCT
CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCT
 1 a0002c0033t0002g0017
a0002c0033t0002g0017
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.5752-21282_5752-21
others(154): Show 
c.5752-21282_5752-21281insAGAGGGGAGAGGGGAGAGGGGAGA
GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG
GGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG
GGAGAGGGGAGAGGGGAGAGGGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981307
chr6:51981308 A
A
 C
C
 14 a0001c0001t0001g0062
a0002c0031t0003g0014
a0002c0033t0002g0017
others(11): Show 
a0001c0001t0001g0062
a0002c0031t0003g0014
a0002c0033t0002g0017
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
 14 HG00423.hp2
HG02015.hp1
HG03225.hp1
others(11): Show 
HG00423.hp2
HG02015.hp1
HG03225.hp1
HG04184.hp2
HG04204.hp2
NA18747.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-21282T>G
c.5752-21282T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981308
chr6:51981308 A
A
 T
T
 65 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(62): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 65 HG00738.hp1
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21282T>A
c.5752-21282T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981308
chr6:51981309 A
A
 C
C
 77 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(74): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0037c0060t0005g0022
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 77 HG00423.hp2
HG00738.hp1
HG00741.hp1
others(74): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21283T>G
c.5752-21283T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981309
chr6:51981310 G
G
 C
C
 77 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(74): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0083t0001g0125
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 77 HG00423.hp2
HG00738.hp1
HG00741.hp1
others(74): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21284C>G
c.5752-21284C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981310
chr6:51981310 G
G
 GCTCTCCC
others(179): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC
CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0001c0061t0001g0064
a0001c0061t0001g0064
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.5752-21285_5752-21
others(192): Show 
c.5752-21285_5752-21284insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981310
chr6:51981310 G
G
 GCTCTCCC
others(142): Show 
GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5752-21285_5752-21
others(155): Show 
c.5752-21285_5752-21284insGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981310
chr6:51981314 T
T
 C
C
 13 a0001c0001t0001g0062
a0002c0031t0003g0014
a0003c0012t0001g0032
others(10): Show 
a0001c0001t0001g0062
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
 13 HG00423.hp2
HG02015.hp1
HG03225.hp1
others(10): Show 
HG00423.hp2
HG02015.hp1
HG03225.hp1
HG04184.hp2
HG04204.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-21288A>G
c.5752-21288A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981314
chr6:51981314 T
T
 TCCCCTCT
others(29): Show 
TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.5752-21289_5752-21
others(42): Show 
c.5752-21289_5752-21288insGAGAGGGGAGAGGGGAGAGGGGAG
AGGGGAGAGGGG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981314
chr6:51981314 T
T
 TCCCCTCT
others(127): Show 
TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCT
CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC
CCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.5752-21289_5752-21
others(140): Show 
c.5752-21289_5752-21288insGAGAGGGGAGAGGGGAGAGGGGAG
AGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA
GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG
GGGAGAGGGG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981314
chr6:51981315 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21289G>T
c.5752-21289G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981315
chr6:51981316 C
C
 G
G
 4 a0001c0002t0001g0083
a0002c0004t0003g0126
a0002c0020t0003g0084
others(1): Show 
a0001c0002t0001g0083
a0002c0004t0003g0126
a0002c0020t0003g0084
a0029c0070t0008g0090
 4 HG01175.hp1
HG03239.hp1
NA18975.hp1
others(1): Show 
HG01175.hp1
HG03239.hp1
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.5752-21290G>C
c.5752-21290G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981316
chr6:51981320 T
T
 C
C
 13 a0001c0001t0001g0062
a0002c0031t0003g0014
a0003c0012t0001g0032
others(10): Show 
a0001c0001t0001g0062
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
 13 HG00423.hp2
HG02015.hp1
HG03225.hp1
others(10): Show 
HG00423.hp2
HG02015.hp1
HG03225.hp1
HG04184.hp2
HG04204.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-21294A>G
c.5752-21294A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981320
chr6:51981320 T
T
 TC
TC
 4 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
a0002c0033t0002g0017
 4 HG02055.hp2
NA18747.hp2
NA18988.hp1
others(1): Show 
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21295dupG
c.5752-21295dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981320
chr6:51981321 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21295G>T
c.5752-21295G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981321
chr6:51981322 C
C
 CCTCCCCC
others(60): Show 
CCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCCTCTCCGGTACAGAGCCCT
TTTAGAGAGGCTCCAAAG
 9 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0008
others(6): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
 9 HG00423.hp2
HG02015.hp1
HG04184.hp2
others(6): Show 
HG00423.hp2
HG02015.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
 intron_variant MODIFIER c.5752-21297_5752-21
others(73): Show 
c.5752-21297_5752-21296insCTTTGGAGCCTCTCTAAAAGGGCT
CTGTACCGGAGAGGGAGAGGGAGAGGGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981322
chr6:51981323 C
C
 CTCTCCCT
others(53): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCGTCTCCG
 2 a0029c0070t0008g0090
a0039c0066t0003g0098
a0029c0070t0008g0090
a0039c0066t0003g0098
 2 HG01175.hp1
HG06807.hp1
HG01175.hp1
HG06807.hp1
 intron_variant MODIFIER c.5752-21298_5752-21
others(66): Show 
c.5752-21298_5752-21297insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981323
chr6:51981323 C
C
 CTCTCCCT
others(41): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG
 1 a0011c0017t0005g0071
a0011c0017t0005g0071
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.5752-21298_5752-21
others(54): Show 
c.5752-21298_5752-21297insCGGAGAGGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981323
chr6:51981323 C
C
 CTCTCCCT
others(35): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG
 7 a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
others(4): Show 
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
 7 HG02818.hp1
HG02896.hp1
HG02965.hp2
others(4): Show 
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
 intron_variant MODIFIER c.5752-21298_5752-21
others(48): Show 
c.5752-21298_5752-21297insCGGAGAGGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981323
chr6:51981323 C
C
 CTCTCCCT
others(29): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG
 2 a0009c0054t0001g0082
a0011c0017t0005g0080
a0009c0054t0001g0082
a0011c0017t0005g0080
 2 HG02976.hp2
HG03540.hp1
HG02976.hp2
HG03540.hp1
 intron_variant MODIFIER c.5752-21298_5752-21
others(42): Show 
c.5752-21298_5752-21297insCGGAGAGGGAGAGGGAGAGGGAGA
GGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981323
chr6:51981324 T
T
 C
C
 2 a0001c0001t0001g0058
a0037c0060t0005g0022
a0001c0001t0001g0058
a0037c0060t0005g0022
 2 HG02257.hp2
HG02922.hp1
HG02257.hp2
HG02922.hp1
 intron_variant MODIFIER c.5752-21298A>G
c.5752-21298A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981324
chr6:51981324 T
T
 TCTCCCCC
others(35): Show 
TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.5752-21299_5752-21
others(48): Show 
c.5752-21299_5752-21298insGGGGAGGGGGAGGGGGAGGGGGAG
GGGGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981324
chr6:51981326 T
T
 C
C
 4 a0001c0001t0001g0062
a0002c0031t0003g0014
a0007c0003t0001g0006
others(1): Show 
a0001c0001t0001g0062
a0002c0031t0003g0014
a0007c0003t0001g0006
a0012c0029t0002g0010
 4 HG03225.hp1
HG04204.hp2
NA19003.hp1
others(1): Show 
HG03225.hp1
HG04204.hp2
NA19003.hp1
NA20752.hp1
 intron_variant MODIFIER c.5752-21300A>G
c.5752-21300A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981326
chr6:51981326 T
T
 TC
TC
 4 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
a0002c0033t0002g0017
 4 HG02055.hp2
NA18747.hp2
NA18988.hp1
others(1): Show 
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21301dupG
c.5752-21301dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981326
chr6:51981327 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21301G>T
c.5752-21301G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981327
chr6:51981327 C
C
 G
G
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.5752-21301G>C
c.5752-21301G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981327
chr6:51981328 C
C
 CCTCCCCC
others(54): Show 
CCTCCCCCTCCCCCTCTCCCTCTCCCTCTCCGGTACAGAGCCCTTTTAGA
GAGGCTCCAAAG
 2 a0002c0031t0003g0014
a0012c0029t0002g0010
a0002c0031t0003g0014
a0012c0029t0002g0010
 2 HG04204.hp2
NA20752.hp1
HG04204.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-21303_5752-21
others(67): Show 
c.5752-21303_5752-21302insCTTTGGAGCCTCTCTAAAAGGGCT
CTGTACCGGAGAGGGAGAGGGAGAGGGGGAGGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981328
chr6:51981329 C
C
 CTCTCCCT
others(71): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCG
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.5752-21304_5752-21
others(84): Show 
c.5752-21304_5752-21303insCGGAGAGGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG
GAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981329 C
C
 CTCTCCCT
others(59): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCGTCTCCG
 1 a0002c0004t0003g0126
a0002c0004t0003g0126
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.5752-21304_5752-21
others(72): Show 
c.5752-21304_5752-21303insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981329 C
C
 CTCTCCCT
others(53): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCGTCTCCG
 3 a0001c0002t0001g0083
a0002c0077t0002g0102
a0044c0075t0001g0119
a0001c0002t0001g0083
a0002c0077t0002g0102
a0044c0075t0001g0119
 3 HG01255.hp2
NA18975.hp1
NA19007.hp2
HG01255.hp2
NA18975.hp1
NA19007.hp2
 intron_variant MODIFIER c.5752-21304_5752-21
others(66): Show 
c.5752-21304_5752-21303insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981329 C
C
 CTCTCCCT
others(47): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGT
CTCCG
 18 a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0123
others(15): Show 
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0034t0001g0016
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0008g0110
a0002c0080t0002g0121
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0034c0085t0004g0096
a0035c0086t0001g0109
a0040c0081t0001g0124
a0041c0088t0006g0114
 18 HG00423.hp1
HG00738.hp2
HG01081.hp2
others(15): Show 
HG00423.hp1
HG00738.hp2
HG01081.hp2
HG01243.hp2
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02280.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG03471.hp1
HG03704.hp1
NA18964.hp1
NA18971.hp1
NA19001.hp1
NA19005.hp2
NA19090.hp2
 intron_variant MODIFIER c.5752-21304_5752-21
others(60): Show 
c.5752-21304_5752-21303insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981329 C
C
 CTCTCCCT
others(35): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCG
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5752-21304_5752-21
others(48): Show 
c.5752-21304_5752-21303insCGGAGAGGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981329 C
C
 CTCTCCCT
others(41): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG
 7 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
others(4): Show 
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0082t0001g0105
a0002c0004t0003g0085
a0006c0078t0005g0104
a0036c0074t0003g0108
 7 HG01106.hp2
HG02155.hp2
HG02451.hp2
others(4): Show 
HG01106.hp2
HG02155.hp2
HG02451.hp2
HG02622.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp2
 intron_variant MODIFIER c.5752-21304_5752-21
others(54): Show 
c.5752-21304_5752-21303insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981329 C
C
 CTCTCCCT
others(35): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5752-21304_5752-21
others(48): Show 
c.5752-21304_5752-21303insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981329 C
C
 G
G
 1 a0024c0068t0001g0091
a0024c0068t0001g0091
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.5752-21303G>C
c.5752-21303G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981329
chr6:51981330 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
 3 HG02257.hp2
HG02922.hp1
NA18971.hp2
HG02257.hp2
HG02922.hp1
NA18971.hp2
 intron_variant MODIFIER c.5752-21304A>G
c.5752-21304A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981330
chr6:51981332 T
T
 C
C
 2 a0001c0001t0001g0062
a0007c0003t0001g0006
a0001c0001t0001g0062
a0007c0003t0001g0006
 2 HG03225.hp1
NA19003.hp1
HG03225.hp1
NA19003.hp1
 intron_variant MODIFIER c.5752-21306A>G
c.5752-21306A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981332
chr6:51981332 T
T
 TC
TC
 4 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
a0002c0033t0002g0017
 4 HG02055.hp2
NA18747.hp2
NA18988.hp1
others(1): Show 
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21307dupG
c.5752-21307dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981332
chr6:51981333 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21307G>T
c.5752-21307G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981333
chr6:51981333 C
C
 CCCTCTCC
others(202): Show 
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCT
 1 a0024c0068t0001g0091
a0024c0068t0001g0091
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.5752-21308_5752-21
others(215): Show 
c.5752-21308_5752-21307insAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG
AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981333
chr6:51981335 C
C
 CTCTCCCT
others(53): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCGTCTCCG
 2 a0001c0093t0001g0127
a0002c0065t0007g0068
a0001c0093t0001g0127
a0002c0065t0007g0068
 2 HG01433.hp1
HG03453.hp2
HG01433.hp1
HG03453.hp2
 intron_variant MODIFIER c.5752-21310_5752-21
others(66): Show 
c.5752-21310_5752-21309insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981335
chr6:51981335 C
C
 CTCTCCCT
others(47): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGT
CTCCG
 3 a0002c0020t0003g0084
a0005c0040t0001g0029
a0038c0062t0002g0065
a0002c0020t0003g0084
a0005c0040t0001g0029
a0038c0062t0002g0065
 3 HG01074.hp2
HG03041.hp2
NA18989.hp2
HG01074.hp2
HG03041.hp2
NA18989.hp2
 intron_variant MODIFIER c.5752-21310_5752-21
others(60): Show 
c.5752-21310_5752-21309insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981335
chr6:51981335 C
C
 CTCTCCCT
others(41): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG
 3 a0001c0002t0001g0107
a0005c0037t0001g0038
a0005c0038t0001g0034
a0001c0002t0001g0107
a0005c0037t0001g0038
a0005c0038t0001g0034
 3 HG01106.hp1
HG03098.hp2
NA19054.hp1
HG01106.hp1
HG03098.hp2
NA19054.hp1
 intron_variant MODIFIER c.5752-21310_5752-21
others(54): Show 
c.5752-21310_5752-21309insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981335
chr6:51981335 C
C
 CTCTCCCT
others(35): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.5752-21310_5752-21
others(48): Show 
c.5752-21310_5752-21309insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981335
chr6:51981336 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
 3 HG02257.hp2
HG02922.hp1
NA18971.hp2
HG02257.hp2
HG02922.hp1
NA18971.hp2
 intron_variant MODIFIER c.5752-21310A>G
c.5752-21310A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981336
chr6:51981338 T
T
 C
C
 2 a0001c0001t0001g0062
a0007c0003t0001g0006
a0001c0001t0001g0062
a0007c0003t0001g0006
 2 HG03225.hp1
NA19003.hp1
HG03225.hp1
NA19003.hp1
 intron_variant MODIFIER c.5752-21312A>G
c.5752-21312A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981338
chr6:51981338 T
T
 TC
TC
 4 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
a0002c0033t0002g0017
 4 HG02055.hp2
NA18747.hp2
NA18988.hp1
others(1): Show 
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21313dupG
c.5752-21313dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981338
chr6:51981339 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21313G>T
c.5752-21313G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981339
chr6:51981342 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
 3 HG02257.hp2
HG02922.hp1
NA18971.hp2
HG02257.hp2
HG02922.hp1
NA18971.hp2
 intron_variant MODIFIER c.5752-21316A>G
c.5752-21316A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981342
chr6:51981344 T
T
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-21318A>G
c.5752-21318A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981344
chr6:51981344 T
T
 TC
TC
 4 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
a0002c0033t0002g0017
 4 HG02055.hp2
NA18747.hp2
NA18988.hp1
others(1): Show 
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21319dupG
c.5752-21319dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981344
chr6:51981345 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21319G>T
c.5752-21319G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981345
chr6:51981347 C
C
 CTCTCCCT
others(29): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCG
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.5752-21322_5752-21
others(42): Show 
c.5752-21322_5752-21321insCGGAGACGGAGAGGGAGAGGGAGA
GGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981347
chr6:51981348 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
 3 HG02257.hp2
HG02922.hp1
NA18971.hp2
HG02257.hp2
HG02922.hp1
NA18971.hp2
 intron_variant MODIFIER c.5752-21322A>G
c.5752-21322A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981348
chr6:51981350 T
T
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-21324A>G
c.5752-21324A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981350
chr6:51981350 T
T
 TC
TC
 4 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0005t0002g0018
a0002c0033t0002g0017
 4 HG02055.hp2
NA18747.hp2
NA18988.hp1
others(1): Show 
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21325dupG
c.5752-21325dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981350
chr6:51981351 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21325G>T
c.5752-21325G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981351
chr6:51981353 C
C
 G
G
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5752-21327G>C
c.5752-21327G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981353
chr6:51981354 T
T
 C
C
 3 a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
a0001c0001t0001g0058
a0001c0022t0001g0132
a0037c0060t0005g0022
 3 HG02257.hp2
HG02922.hp1
NA18971.hp2
HG02257.hp2
HG02922.hp1
NA18971.hp2
 intron_variant MODIFIER c.5752-21328A>G
c.5752-21328A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981354
chr6:51981356 T
T
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-21330A>G
c.5752-21330A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981356
chr6:51981356 T
T
 TC
TC
 3 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
 3 NA18747.hp2
NA18988.hp1
NA19054.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21331dupG
c.5752-21331dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981356
chr6:51981357 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21331G>T
c.5752-21331G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981357
chr6:51981357 C
C
 CCGGTACA
others(60): Show 
CCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTC
CCTCTCCCCTCTCCCTCT
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.5752-21332_5752-21
others(73): Show 
c.5752-21332_5752-21331insAGAGGGAGAGGGGAGAGGGAGAGG
GAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981357
chr6:51981360 T
T
 C
C
 3 a0001c0001t0001g0058
a0002c0005t0002g0018
a0037c0060t0005g0022
a0001c0001t0001g0058
a0002c0005t0002g0018
a0037c0060t0005g0022
 3 HG02055.hp2
HG02257.hp2
HG02922.hp1
HG02055.hp2
HG02257.hp2
HG02922.hp1
 intron_variant MODIFIER c.5752-21334A>G
c.5752-21334A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981360
chr6:51981360 T
T
 TCTCCCTC
others(53): Show 
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCCCTCCCC
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.5752-21335_5752-21
others(66): Show 
c.5752-21335_5752-21334insGGGGAGGGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981360
chr6:51981360 T
T
 TCTCCCTC
others(71): Show 
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCCCTCCCC
 1 a0001c0010t0001g0077
a0001c0010t0001g0077
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.5752-21335_5752-21
others(84): Show 
c.5752-21335_5752-21334insGGGGAGGGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981360
chr6:51981360 T
T
 TCTCCCTC
others(77): Show 
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCC
 1 a0001c0010t0001g0078
a0001c0010t0001g0078
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.5752-21335_5752-21
others(90): Show 
c.5752-21335_5752-21334insGGGGAGGGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981360
chr6:51981360 T
T
 TCTCCCTC
others(83): Show 
TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC
TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCC
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.5752-21335_5752-21
others(96): Show 
c.5752-21335_5752-21334insGGGGAGGGGGAGAGGGAGAGGGAG
AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG
GGAGAGGGAGAGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981360
chr6:51981362 T
T
 TC
TC
 3 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
 3 NA18747.hp2
NA18988.hp1
NA19054.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-21337dupG
c.5752-21337dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981362
chr6:51981362 T
T
 TCTCCCCT
others(87): Show 
TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT
CTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.5752-21337_5752-21
others(100): Show 
c.5752-21337_5752-21336insGAGAGGGGAGAGGGGAGAGGGGAG
AGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA
GGGGAGAGGGGAGAGGGGAG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981362
chr6:51981363 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21337G>T
c.5752-21337G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981363
chr6:51981369 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-21343G>T
c.5752-21343G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981369
chr6:51981371 C
C
 CTCTCCCT
others(203): Show 
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT
CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC
CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT
CTCCCTCTCCG
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.5752-21346_5752-21
others(216): Show 
c.5752-21346_5752-21345insCGGAGAGGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG
GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA
GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981371
chr6:51981371 C
C
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5752-21345G>C
c.5752-21345G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981371
chr6:51981488 G
G
 GT
GT
 23 a0001c0001t0001g0062
a0001c0002t0001g0083
a0002c0005t0002g0021
others(20): Show 
a0001c0001t0001g0062
a0001c0002t0001g0083
a0002c0005t0002g0021
a0002c0031t0003g0014
a0003c0012t0001g0032
a0003c0013t0001g0052
a0004c0008t0004g0045
a0004c0014t0004g0033
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0027t0002g0005
a0012c0029t0002g0010
a0016c0090t0001g0120
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0039c0066t0003g0098
 23 HG00423.hp2
HG00741.hp1
HG01081.hp2
others(20): Show 
HG00423.hp2
HG00741.hp1
HG01081.hp2
HG02015.hp1
HG02015.hp2
HG02809.hp2
HG02897.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03669.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19007.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-21463dupA
c.5752-21463dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981488
chr6:51981598 C
C
 T
T
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.5752-21572G>A
c.5752-21572G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981598
chr6:51981599 G
G
 A
A
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.5752-21573C>T
c.5752-21573C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981599
chr6:51981624 TG
TG
 T
T
 44 a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
others(41): Show 
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21599delC
c.5752-21599delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981624
chr6:51981664 G
G
 A
A
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.5752-21638C>T
c.5752-21638C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981664
chr6:51981738 A
A
 AC
AC
 13 a0001c0001t0001g0058
a0001c0019t0001g0118
a0001c0094t0001g0131
others(10): Show 
a0001c0001t0001g0058
a0001c0019t0001g0118
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0003c0007t0001g0037
a0004c0008t0011g0026
a0006c0076t0005g0088
a0008c0018t0020g0074
a0009c0087t0001g0111
a0018c0052t0006g0086
a0026c0073t0005g0094
a0036c0074t0003g0108
 13 HG00741.hp2
HG01106.hp2
HG01243.hp1
others(10): Show 
HG00741.hp2
HG01106.hp2
HG01243.hp1
HG02055.hp2
HG02257.hp2
HG02486.hp1
HG02717.hp1
HG02809.hp1
HG03098.hp1
HG03139.hp1
HG04228.hp2
NA18964.hp1
NA18964.hp2
 intron_variant MODIFIER c.5752-21713dupG
c.5752-21713dupG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981738
chr6:51981847 G
G
 A
A
 3 a0001c0061t0001g0064
a0043c0063t0005g0066
a0048c0023t0017g0081
a0001c0061t0001g0064
a0043c0063t0005g0066
a0048c0023t0017g0081
 3 HG02622.hp1
HG03453.hp1
NA20300.hp1
HG02622.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-21821C>T
c.5752-21821C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981847
chr6:51981850 T
T
 C
C
 43 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
others(40): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 43 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(40): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21824A>G
c.5752-21824A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981850
chr6:51981890 T
T
 C
C
 66 a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
others(63): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0079t0007g0089
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0018c0052t0006g0086
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0037c0060t0005g0022
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0047c0051t0004g0056
a0048c0023t0017g0081
 66 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21864A>G
c.5752-21864A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981890
chr6:51981911 A
A
 T
T
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-21885T>A
c.5752-21885T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981911
chr6:51981937 C
C
 T
T
 41 a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
others(38): Show 
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 41 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(38): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21911G>A
c.5752-21911G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981937
chr6:51981967 G
G
 T
T
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0006c0011t0005g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0006c0011t0005g0063
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0042c0035t0006g0059
 8 HG00741.hp1
HG02451.hp1
HG02809.hp2
others(5): Show 
HG00741.hp1
HG02451.hp1
HG02809.hp2
HG02897.hp2
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-21941C>A
c.5752-21941C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981967
chr6:51981969 C
C
 T
T
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.5752-21943G>A
c.5752-21943G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981969
chr6:51981992 C
C
 T
T
 2 a0001c0001t0001g0058
a0037c0060t0005g0022
a0001c0001t0001g0058
a0037c0060t0005g0022
 2 HG02257.hp2
HG02922.hp1
HG02257.hp2
HG02922.hp1
 intron_variant MODIFIER c.5752-21966G>A
c.5752-21966G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51981992
chr6:51982013 C
C
 T
T
 44 a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
others(41): Show 
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-21987G>A
c.5752-21987G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982013
chr6:51982119 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-22093C>T
c.5752-22093C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982119
chr6:51982123 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-22097C>T
c.5752-22097C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982123
chr6:51982149 G
G
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5752-22123C>G
c.5752-22123C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982149
chr6:51982182 A
A
 AGGTGGGG
others(1155): Show 
AGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG
GTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC
GGGAGCGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC
CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATC
CGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGGTCA
GCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG
CCGCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCC
CGTCCGGGAGGAT
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1168): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
CACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGC
TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG
CCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGGGGGCTGACCCCCCCCTCCCCGCTCCCGGACGGGGCGG
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1152): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC
GGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATC
CGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCG
CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT
CCGGGAGGAT
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1165): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1154): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC
GGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGTGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCAT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC
CGCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCC
GTCCGGGAGGAT
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1167): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1105): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAG
TCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCAT
CCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCA
GCCCCCAGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG
CCGCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCC
CGTCCGGGAGGAT
 1 a0029c0070t0008g0090
a0029c0070t0008g0090
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1118): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCTGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCTGACCCCCC
CACCTCCCTCCCGGACGGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCG
GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG
AGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1201): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1214): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1201): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 2 a0001c0061t0001g0064
a0043c0063t0005g0066
a0001c0061t0001g0064
a0043c0063t0005g0066
 2 HG03453.hp1
NA20300.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1214): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1153): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC
GCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG
TCCGGGAGGAT
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1166): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1152): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCG
CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT
CCGGGAGGAT
 3 a0002c0021t0004g0128
a0019c0049t0001g0035
a0038c0062t0002g0065
a0002c0021t0004g0128
a0019c0049t0001g0035
a0038c0062t0002g0065
 3 HG00738.hp1
HG02698.hp1
HG03041.hp2
HG00738.hp1
HG02698.hp1
HG03041.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1165): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1151): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 4 a0001c0022t0001g0129
a0001c0022t0001g0132
a0002c0021t0004g0130
others(1): Show 
a0001c0022t0001g0129
a0001c0022t0001g0132
a0002c0021t0004g0130
a0026c0073t0005g0094
 4 HG01071.hp1
HG02155.hp1
HG02717.hp1
others(1): Show 
HG01071.hp1
HG02155.hp1
HG02717.hp1
NA18971.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1164): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1150): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGAT
 3 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
 3 NA18747.hp2
NA18988.hp1
NA19054.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1163): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1202): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCTGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCG
CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT
CCGGGAGGAT
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1215): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCAGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1201): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCTGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1214): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCAGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1104): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAG
GTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC
GGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT
CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC
CGCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCC
GTCCGGGAGGAT
 1 a0004c0008t0004g0045
a0004c0008t0004g0045
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1117): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1295): Show 
AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGCCT
GGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC
TACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAG
GAT
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1308): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC
AGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA
GGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGG
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG
AGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT
CACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCT
CCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1101): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCCGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCC
GCCCGCAGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC
CGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAG
TCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATC
CGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0003c0016t0001g0027
a0003c0016t0001g0027
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1114): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG
GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACTGGGCGGCTGGCTGCGGGCGGGGGGCTGACCCCC
CAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCGGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1151): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCAGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCTCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCGCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1164): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGCGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGAGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGACTGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1150): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCAGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCTCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCGCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGAT
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1163): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGCGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGAGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACTGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1205): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCCGTCCG
GGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCTGCCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC
CGCCCGCCTGGCCAGCCGCCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC
CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCC
CGTCCGGGAGGAT
 1 a0006c0076t0005g0088
a0006c0076t0005g0088
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1218): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCAGACGGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGG
CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG
CCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGGC
GGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCG
GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG
AGGCGCCCCTCACCTCCCGGGACTGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGAT
GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1202): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGGTCAGCC
CCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCG
CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT
CCGGGAGGAT
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1215): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
CACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGGCAGAG
GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1203): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGCGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCC
GCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG
TCCGGGAGGAT
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1216): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGG
CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG
CCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCAGGGGGCTGACCCCCGCTCCCCGCTCCCGGACGGGGCGG
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1206): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA
GCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCA
GCCCCCCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTC
AGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCA
GCCGCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCC
CCGTCCGGGAGGAT
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1219): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCC
CACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC
GCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGGGGGCTGACCCCCCCCTCCCCGCTCCCGGACGGGG
CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTC
CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGA
TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1199): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTAGTGAGGAGCCCCTC
TGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG
CCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGG
AGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCC
GCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG
GGAGGAT
 1 a0028c0071t0012g0093
a0028c0071t0012g0093
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1212): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC
TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTAG
TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGGCGGCTG
GCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1127): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCA
CCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCC
CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCC
CCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCC
CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATT
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCT
GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGATCAGCCGCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCTGGCCAGCCGCCCTGTCCGGGAGGAT
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1140): Show 
c.5752-22157_5752-22156insATCCTCCCGGACAGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCTGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCTGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGG
CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
ACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
ACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCTCCCCGCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCG
ACTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAG
AGGAGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1201): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1214): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1200): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGAT
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0063
a0006c0011t0005g0134
a0024c0068t0001g0091
a0027c0069t0018g0092
 8 HG02451.hp1
HG02809.hp2
HG02897.hp2
others(5): Show 
HG02451.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03225.hp1
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1213): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1199): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCC
GCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG
GGAGGAT
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1212): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG
GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC
TCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1200): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGAT
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1213): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1151): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCTCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1164): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGAGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1151): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCTCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCGCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0032c0058t0001g0070
a0032c0058t0001g0070
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1164): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGCGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGAGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1151): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCTCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1164): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
CACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGAGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1150): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCTCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGAT
 2 a0009c0054t0001g0082
a0011c0017t0005g0080
a0009c0054t0001g0082
a0011c0017t0005g0080
 2 HG02976.hp2
HG03540.hp1
HG02976.hp2
HG03540.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1163): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGAGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1150): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGGGGGATCAGCCCTCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCGCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGAT
 4 a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
others(1): Show 
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
 4 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(1): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG03486.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1163): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGCGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGAGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1072): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCCGGCCAGCCGCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCC
TCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCAC
CTGGCCAGCCGCCCCGTACGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGC
CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGA
GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCTGGGAG
GGAGGTGGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGATCAGCCGCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCTGGCCAGCCGCCCCGTCCGGGAGGAT
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1085): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGTACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG
GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC
TCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAG
CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
CCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(800): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGG
AGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG
GAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG
GAGGTGGGGGAATCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGACCAGCCGCCCCGTCCGGGAGGGGAGGTGGGGGGATCAGCCCCC
CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGAT
 1 a0001c0032t0001g0075
a0001c0032t0001g0075
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(813): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCC
ACCTCCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCAGGCGGGGGGGCTGATTCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(796): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGA
GGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGG
AGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGA
GGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA
GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGC
CCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC
TGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGA
GGAT
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(809): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGATGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1099): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCC
GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG
GGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCC
GCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG
GGAGGAT
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1112): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG
GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCC
AACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1294): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCAGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
TGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC
GACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGCCTG
GCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT
ACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGAGG
AT
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1307): Show 
c.5752-22157_5752-22156insATCCTCCCGGATGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC
AGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA
GGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGG
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG
AGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCTCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT
CACCTCCCGGACTGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCAACCT
CCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1203): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC
AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC
GCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG
TCCGGGAGGAT
 1 a0007c0003t0001g0008
a0007c0003t0001g0008
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1216): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1297): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCG
CCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGC
CTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGG
AGGAT
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1310): Show 
c.5752-22157_5752-22156insATCCTCCCGGATGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGGCTGACCCCCCC
ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT
AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC
CAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
AGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAG
GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGG
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGC
AGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAA
CCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1298): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG
CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGG
GAGGAT
 1 a0003c0007t0001g0049
a0003c0007t0001g0049
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1311): Show 
c.5752-22157_5752-22156insATCCTCCCGGATGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT
AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC
CAGGCGGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCA
GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGG
GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGG
CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC
ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT
AGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA
ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(926): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AAGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGAT
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(939): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCC
ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCGCCAC
CTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAG
TAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGG
CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCA
CCCCTCACTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCA
CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC
CTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCTGGACGGGGCGA
CTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1203): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT
CCGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCTGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC
CCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC
GCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG
TCCGGGAGGAT
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1216): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC
CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA
GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1204): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
CCCCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG
CCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC
CGCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCC
GTCCGGGAGGAT
 1 a0007c0003t0001g0012
a0007c0003t0001g0012
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1217): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGC
TGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG
CCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC
CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCG
GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG
AGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1202): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG
GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC
CCCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCG
CCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT
CCGGGAGGAT
 2 a0002c0031t0003g0014
a0012c0027t0002g0005
a0002c0031t0003g0014
a0012c0027t0002g0005
 2 HG04204.hp2
NA18988.hp2
HG04204.hp2
NA18988.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1215): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1201): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC
CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA
GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC
CGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC
CCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC
CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC
CCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 5 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0011
others(2): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0011
a0010c0026t0001g0013
a0010c0028t0001g0009
 5 HG00423.hp2
HG02015.hp1
NA18989.hp1
others(2): Show 
HG00423.hp2
HG02015.hp1
NA18989.hp1
NA19007.hp1
NA20129.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1214): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG
GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC
CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1101): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCAGTC
TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC
CGGGAGGAT
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1114): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCCGGGCAGAGGCG
CCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGC
CGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC
CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1099): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCC
GCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG
GGAGGAT
 1 a0004c0046t0002g0050
a0004c0046t0002g0050
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1112): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG
GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC
TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
AACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1296): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG
GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGCC
TGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGA
GGAT
 1 a0003c0048t0001g0047
a0003c0048t0001g0047
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1309): Show 
c.5752-22157_5752-22156insATCCTCCCGGATGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT
AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC
CAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
AGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAG
GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGG
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGC
AGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA
CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAAC
CTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1098): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG
CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG
GAGGAT
 11 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0012t0001g0025
others(8): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0028
a0004c0006t0003g0040
a0004c0008t0011g0026
a0021c0045t0001g0036
a0022c0042t0002g0051
 11 HG00741.hp2
HG01175.hp2
HG01433.hp2
others(8): Show 
HG00741.hp2
HG01175.hp2
HG01433.hp2
HG02015.hp2
HG03239.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18964.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1111): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG
GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA
ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1294): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
TGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC
GACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGCCTG
GCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT
ACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGAGG
AT
 3 a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0043t0015g0057
a0003c0041t0001g0046
a0004c0006t0002g0048
a0004c0043t0015g0057
 3 HG01071.hp2
HG02055.hp1
NA20752.hp2
HG01071.hp2
HG02055.hp1
NA20752.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1307): Show 
c.5752-22157_5752-22156insATCCTCCCGGATGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC
CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA
GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC
AGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA
GGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGG
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
GGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG
AGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC
TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG
GGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT
CACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCT
CCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1049): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCGCCC
GCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG
GGAGGAT
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.5752-22157_5752-22
others(1062): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGACCCCCCC
ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCC
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG
GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC
TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA
GTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC
AACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTT
CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1098): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG
CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG
GAGGAT
 1 a0004c0014t0004g0024
a0004c0014t0004g0024
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1111): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC
TGGCCAGGCGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG
GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA
ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1098): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG
CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG
GAGGAT
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1111): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC
GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG
GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA
ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982182 A
A
 AGGTGGGG
others(1098): Show 
AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCT
GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG
GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT
GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG
CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG
GAGGAT
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.5752-22157_5752-22
others(1111): Show 
c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC
CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC
AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT
GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC
CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG
GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG
GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT
CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG
TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA
ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGAGCTCCTCACTTC
CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCCACC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982182
chr6:51982185 T
T
 TGG
TGG
 37 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(34): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 37 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(34): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG02040.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5752-22161_5752-22
others(8): Show 
c.5752-22161_5752-22160dupCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982185
chr6:51982185 T
T
 TGGGGGGG
others(1153): Show 
TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGA
GGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC
CTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCC
GCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGG
GAGGGAGGTGGGGGGATCAGCCCCCCACCTGGCCAGCCGCCCCATCCGGG
AGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC
CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCC
CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCC
GCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG
CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG
GGAGGATGGTG
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.5752-22160_5752-22
others(1166): Show 
c.5752-22160_5752-22159insCACCATCCTCCCGGACGGGGCGGC
TGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCC
CCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCC
CCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG
CGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCAGGTGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGG
CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGG
CGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGG
CGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGC
GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGAT
GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982185
chr6:51982185 T
T
 TGGGGGGG
others(1204): Show 
TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG
GGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC
TGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCAGCCGCCCCGTCCGGGAGG
TGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG
CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC
GGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC
CCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC
CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC
CGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC
GGGAGGATGGTG
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.5752-22160_5752-22
others(1217): Show 
c.5752-22160_5752-22159insCACCATCCTCCCGGACGGGGCGGC
TGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG
GCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCC
CCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC
CCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC
GGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC
GCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCTGACCCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGG
GGCGGCTGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982185
chr6:51982206 C
C
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-22180G>A
c.5752-22180G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982206
chr6:51982220 A
A
 ATCCGGGA
others(670): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCGCCCGGCCAGCCG
CCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC
CCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC
CCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCC
CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT
GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG
GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGG
GTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGG
GTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA
TCAGCCGCCCGCCTGGCCAGCCGCCCCG
 3 a0001c0002t0001g0107
a0002c0080t0002g0121
a0040c0081t0001g0124
a0001c0002t0001g0107
a0002c0080t0002g0121
a0040c0081t0001g0124
 3 NA18971.hp1
NA19001.hp1
NA19054.hp1
NA18971.hp1
NA19001.hp1
NA19054.hp1
 intron_variant MODIFIER c.5752-22195_5752-22
others(683): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGG
CTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCC
GGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(898): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCC
GCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCC
GCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGA
AGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGG
GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG
GGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC
CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG
CCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC
TGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGACCAGC
CGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGCCTGGCCAGCC
GCCCCG
 1 a0002c0004t0003g0085
a0002c0004t0003g0085
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.5752-22195_5752-22
others(911): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
CTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGG
CTGACCCCCCCCTCCCCGCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCTGGGCAGAGGAGCCCCTCACCTCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1025): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCC
GCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCC
GCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGA
AGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGC
GCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCC
AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG
CCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCC
GCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAG
CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG
GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.5752-22195_5752-22
others(1038): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGG
ATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA
CTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTG
GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCC
GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCC
GGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCTCCCCGCTCCC
GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCAC
CTCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(898): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGG
GGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG
GTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG
GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC
CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG
CCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC
TGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGACCAGC
CGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGCCTGGCCAGCC
GCCCCG
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.5752-22195_5752-22
others(911): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGG
ATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA
CTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
GGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG
GCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG
GCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC
CGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT
GGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCTGGGCAGAGGAGCCCCTCACCTCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1024): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG
CCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCC
GCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGC
CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG
AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGG
GGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.5752-22195_5752-22
others(1037): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTG
GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCC
GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCC
GGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCG
GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACC
TCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1021): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGATCAGCCCCCCGCCTGGCCAGCC
GCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGC
CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGC
CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG
TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGG
GGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGG
GGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
ATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5752-22195_5752-22
others(1034): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG
ACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGAT
GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCACCTCCCTCCCGGACTG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGC
AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTC
CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGAC
GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
GGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGG
GCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCC
CGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1025): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAG
CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG
GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 1 a0005c0037t0001g0038
a0005c0037t0001g0038
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.5752-22195_5752-22
others(1038): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCG
GATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGG
ACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCT
GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGG
GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCC
CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCC
CGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCC
GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCAC
CTCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1024): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGC
CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG
AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGG
GGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 4 a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0093t0001g0127
others(1): Show 
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0093t0001g0127
a0002c0004t0003g0126
 4 HG01433.hp1
HG03239.hp1
NA18964.hp1
others(1): Show 
HG01433.hp1
HG03239.hp1
NA18964.hp1
NA19005.hp2
 intron_variant MODIFIER c.5752-22195_5752-22
others(1037): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGG
ATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA
CTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTG
GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCC
GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCC
GGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCG
GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGA
GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACC
TCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1023): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC
CACCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCC
GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA
AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGG
GGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.5752-22195_5752-22
others(1036): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGG
GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG
GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGG
ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCT
CCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1023): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC
CGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCC
GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA
AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGG
GGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 21 a0001c0001t0001g0060
a0001c0002t0001g0113
a0001c0002t0001g0117
others(18): Show 
a0001c0001t0001g0060
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0034t0001g0016
a0001c0082t0001g0105
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0005c0038t0001g0034
a0005c0039t0001g0030
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0044c0075t0001g0119
 21 HG00423.hp1
HG00738.hp2
HG01081.hp2
others(18): Show 
HG00423.hp1
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01255.hp2
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02451.hp2
HG02622.hp2
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03453.hp2
HG03471.hp1
HG03704.hp1
NA19007.hp2
 intron_variant MODIFIER c.5752-22195_5752-22
others(1036): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGG
GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG
GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGG
ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCT
CCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1022): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC
GCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGG
GGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGG
GGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG
GATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 2 a0002c0004t0010g0101
a0017c0089t0002g0116
a0002c0004t0010g0101
a0017c0089t0002g0116
 2 HG01243.hp2
HG02683.hp1
HG01243.hp2
HG02683.hp1
 intron_variant MODIFIER c.5752-22195_5752-22
others(1035): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG
ACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGAT
GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACT
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGG
CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG
ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG
ACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGA
CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC
CGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGG
GGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGG
GGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTC
CCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1025): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCACCTGGCCAGCC
GCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAG
CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG
GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGG
GGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 1 a0001c0009t0001g0106
a0001c0009t0001g0106
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.5752-22195_5752-22
others(1038): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCCAGGTGGGGGGGCTGACCCCCCACCTCCCTCCCG
GATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGG
ACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCT
GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGG
GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGG
GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCC
CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCC
CGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCC
GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAG
AGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCAC
CTCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(897): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCGGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGG
GGATCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG
GTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG
GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG
AATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC
TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG
CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC
CGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCT
GCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGACCAGCC
GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCGCCTGGCCAGCCG
CCCCG
 1 a0002c0020t0003g0084
a0002c0020t0003g0084
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.5752-22195_5752-22
others(910): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACC
GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
CTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGG
CTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG
CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC
GGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG
GACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCTGGGCAGAGGAGCCCCTCACCTCCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982220 A
A
 ATCCGGGA
others(1023): Show 
ATCCGGGAGGTGAGGGGCTCCTCTGCCCAGCTGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG
TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC
TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCCCGTCCGGGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCG
CCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCA
GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG
CCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC
CGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC
CGCCCCGTCCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCC
GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA
AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGG
GGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGG
GGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGATCAGCCGCCCGCCTGGCCAGCCGCCCCG
 1 a0005c0040t0001g0029
a0005c0040t0001g0029
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.5752-22195_5752-22
others(1036): Show 
c.5752-22195_5752-22194insCGGGGCGGCTGGCCAGGCGGGCGG
CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC
TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGG
GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG
GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGG
ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAG
GGGCTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGAGCCCCTCACCT
CCCGGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982220
chr6:51982237 C
C
 T
T
 8 a0001c0001t0001g0061
a0001c0001t0001g0062
a0006c0011t0005g0063
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0006c0011t0005g0063
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0042c0035t0006g0059
 8 HG00741.hp1
HG02451.hp1
HG02809.hp2
others(5): Show 
HG00741.hp1
HG02451.hp1
HG02809.hp2
HG02897.hp2
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-22211G>A
c.5752-22211G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982237
chr6:51982252 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-22226C>T
c.5752-22226C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982252
chr6:51982316 C
C
 G
G
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-22290G>C
c.5752-22290G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982316
chr6:51982323 C
C
 T
T
 43 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
others(40): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 43 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(40): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22297G>A
c.5752-22297G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982323
chr6:51982370 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5752-22344G>A
c.5752-22344G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982370
chr6:51982383 G
G
 A
A
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5752-22357C>T
c.5752-22357C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982383
chr6:51982442 A
A
 C
C
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-22416T>G
c.5752-22416T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982442
chr6:51982443 C
C
 T
T
 2 a0003c0012t0001g0032
a0004c0014t0004g0033
a0003c0012t0001g0032
a0004c0014t0004g0033
 2 HG00423.hp2
HG02015.hp1
HG00423.hp2
HG02015.hp1
 intron_variant MODIFIER c.5752-22417G>A
c.5752-22417G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982443
chr6:51982626 G
G
 A
A
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.5752-22600C>T
c.5752-22600C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982626
chr6:51982815 A
A
 AT
AT
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5752-22790_5752-22
others(7): Show 
c.5752-22790_5752-22789insA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982815
chr6:51982815 A
A
 T
T
 19 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
others(16): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0001c0061t0001g0064
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0077t0002g0102
a0002c0091t0007g0133
a0006c0011t0005g0134
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0043c0063t0005g0066
a0047c0051t0004g0056
a0048c0023t0017g0081
 19 HG01255.hp2
HG02280.hp2
HG02622.hp1
others(16): Show 
HG01255.hp2
HG02280.hp2
HG02622.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG04184.hp1
HG04228.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.5752-22789T>A
c.5752-22789T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982815
chr6:51982817 AT
AT
 A
A
 38 a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
others(35): Show 
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 38 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(35): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22792delA
c.5752-22792delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982817
chr6:51982818 T
T
 A
A
 1 a0004c0006t0002g0048
a0004c0006t0002g0048
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.5752-22792A>T
c.5752-22792A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982818
chr6:51982827 T
T
 A
A
 32 a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
others(29): Show 
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(29): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22801A>T
c.5752-22801A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982827
chr6:51982846 TA
TA
 T
T
 29 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(26): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 29 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(26): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22821delT
c.5752-22821delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982846
chr6:51982855 A
A
 AAAAAT
AAAAAT
 12 a0001c0001t0001g0060
a0001c0009t0001g0106
a0001c0034t0001g0016
others(9): Show 
a0001c0001t0001g0060
a0001c0009t0001g0106
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0020t0008g0110
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0044c0075t0001g0119
 12 HG00423.hp1
HG01106.hp2
HG01261.hp1
others(9): Show 
HG00423.hp1
HG01106.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp1
HG02155.hp2
HG02965.hp1
HG02970.hp2
HG03239.hp1
HG03471.hp1
NA19007.hp2
NA20129.hp1
 intron_variant MODIFIER c.5752-22834_5752-22
others(11): Show 
c.5752-22834_5752-22830dupATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982855
chr6:51982855 A
A
 AAAAATAA
others(3): Show 
AAAAATAAAAT
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.5752-22839_5752-22
others(16): Show 
c.5752-22839_5752-22830dupATTTTATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982855
chr6:51982855 AAAAAT
AAAAAT
 A
A
 4 a0002c0005t0002g0021
a0002c0079t0007g0089
a0006c0076t0005g0088
others(1): Show 
a0002c0005t0002g0021
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 4 HG01255.hp1
HG02486.hp1
HG03041.hp1
others(1): Show 
HG01255.hp1
HG02486.hp1
HG03041.hp1
HG03486.hp2
 intron_variant MODIFIER c.5752-22834_5752-22
others(11): Show 
c.5752-22834_5752-22830delATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982855
chr6:51982855 AAAAATAA
others(8): Show 
AAAAATAAAATAAAAT
 A
A
 1 a0001c0010t0001g0077
a0001c0010t0001g0077
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.5752-22844_5752-22
others(21): Show 
c.5752-22844_5752-22830delATTTTATTTTATTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982855
chr6:51982875 T
T
 TA
TA
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22850dupT
c.5752-22850dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982875
chr6:51982875 T
T
 TAAAAATA
TAAAAATA
 11 a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
others(8): Show 
a0002c0031t0003g0014
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0029t0002g0010
 11 HG00423.hp2
HG02015.hp1
HG04184.hp2
others(8): Show 
HG00423.hp2
HG02015.hp1
HG04184.hp2
HG04204.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-22850_5752-22
others(13): Show 
c.5752-22850_5752-22849insTATTTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982875
chr6:51982880 T
T
 A
A
 2 a0004c0008t0003g0003
a0012c0027t0002g0005
a0004c0008t0003g0003
a0012c0027t0002g0005
 2 HG01496.hp2
NA18988.hp2
HG01496.hp2
NA18988.hp2
 intron_variant MODIFIER c.5752-22854A>T
c.5752-22854A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982880
chr6:51982881 A
A
 T
T
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.5752-22855T>A
c.5752-22855T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982881
chr6:51982885 T
T
 A
A
 40 a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
others(37): Show 
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 40 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(37): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22859A>T
c.5752-22859A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982885
chr6:51982886 A
A
 T
T
 39 a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
others(36): Show 
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 39 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(36): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22860T>A
c.5752-22860T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982886
chr6:51982887 A
A
 T
T
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.5752-22861T>A
c.5752-22861T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982887
chr6:51982889 AT
AT
 A
A
 6 a0001c0001t0001g0062
a0006c0011t0005g0063
a0024c0068t0001g0091
others(3): Show 
a0001c0001t0001g0062
a0006c0011t0005g0063
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 6 HG00741.hp1
HG02809.hp2
HG02897.hp2
others(3): Show 
HG00741.hp1
HG02809.hp2
HG02897.hp2
HG03225.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-22864delA
c.5752-22864delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982889
chr6:51982890 T
T
 A
A
 51 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0061t0001g0064
others(48): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0061t0001g0064
a0002c0005t0002g0021
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0018c0052t0006g0086
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
a0043c0063t0005g0066
a0047c0051t0004g0056
a0048c0023t0017g0081
 51 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(48): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22864A>T
c.5752-22864A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982890
chr6:51982892 A
A
 T
T
 28 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(25): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 28 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(25): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22866T>A
c.5752-22866T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982892
chr6:51982893 A
A
 T
T
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.5752-22867T>A
c.5752-22867T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982893
chr6:51982897 A
A
 G
G
 5 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0005t0002g0021
others(2): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0005t0002g0021
a0006c0011t0005g0134
a0047c0051t0004g0056
 5 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(2): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.5752-22871T>C
c.5752-22871T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982897
chr6:51982998 A
A
 C
C
 44 a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
others(41): Show 
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-22972T>G
c.5752-22972T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51982998
chr6:51983149 A
A
 G
G
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5752-23123T>C
c.5752-23123T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983149
chr6:51983172 C
C
 T
T
 29 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(26): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 29 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(26): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5752-23146G>A
c.5752-23146G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983172
chr6:51983204 A
A
 C
C
 3 a0001c0001t0001g0062
a0006c0011t0005g0063
a0029c0070t0008g0090
a0001c0001t0001g0062
a0006c0011t0005g0063
a0029c0070t0008g0090
 3 HG01175.hp1
HG02809.hp2
HG03225.hp1
HG01175.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5752-23178T>G
c.5752-23178T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983204
chr6:51983229 G
G
 A
A
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.5752-23203C>T
c.5752-23203C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983229
chr6:51983323 G
G
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5752-23297C>A
c.5752-23297C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983323
chr6:51983490 A
A
 G
G
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5752-23464T>C
c.5752-23464T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983490
chr6:51983840 C
C
 T
T
 6 a0001c0001t0001g0061
a0024c0068t0001g0091
a0025c0072t0001g0095
others(3): Show 
a0001c0001t0001g0061
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0042c0035t0006g0059
 6 HG00741.hp1
HG02451.hp1
HG02897.hp2
others(3): Show 
HG00741.hp1
HG02451.hp1
HG02897.hp2
HG02970.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5752-23814G>A
c.5752-23814G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983840
chr6:51983845 G
G
 C
C
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5752-23819C>G
c.5752-23819C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51983845
chr6:51984131 C
C
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5752-24105G>T
c.5752-24105G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51984131
chr6:51984420 G
G
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.5752-24394C>A
c.5752-24394C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51984420
chr6:51984476 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5752-24450G>A
c.5752-24450G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51984476
chr6:51984524 A
A
 G
G
 2 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0002t0009g0099
a0001c0002t0009g0100
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.5752-24498T>C
c.5752-24498T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51984524
chr6:51984682 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5752-24656C>T
c.5752-24656C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51984682
chr6:51984715 G
G
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5752-24689C>T
c.5752-24689C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51984715
chr6:51985018 GA
GA
 G
G
 17 a0001c0001t0001g0062
a0002c0079t0007g0089
a0003c0012t0001g0032
others(14): Show 
a0001c0001t0001g0062
a0002c0079t0007g0089
a0003c0012t0001g0032
a0004c0014t0004g0033
a0006c0011t0005g0063
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0045c0084t0006g0087
 17 HG00423.hp2
HG01255.hp1
HG02015.hp1
others(14): Show 
HG00423.hp2
HG01255.hp1
HG02015.hp1
HG02486.hp1
HG02809.hp2
HG03041.hp1
HG03225.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-24993delT
c.5752-24993delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51985018
chr6:51985026 A
A
 C
C
 12 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(9): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(9): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5752-25000T>G
c.5752-25000T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51985026
chr6:51985196 T
T
 G
G
 4 a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
others(1): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 4 HG00741.hp1
HG02897.hp2
HG03225.hp2
others(1): Show 
HG00741.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+25113A>C
c.5751+25113A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51985196
chr6:51985213 T
T
 G
G
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+25096A>C
c.5751+25096A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51985213
chr6:51985372 G
G
 A
A
 12 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(9): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(9): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+24937C>T
c.5751+24937C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51985372
chr6:51986066 G
G
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+24243C>G
c.5751+24243C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51986066
chr6:51986096 T
T
 C
C
 1 a0040c0081t0001g0124
a0040c0081t0001g0124
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.5751+24213A>G
c.5751+24213A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51986096
chr6:51986201 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5751+24108C>T
c.5751+24108C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51986201
chr6:51986307 C
C
 T
T
 6 a0001c0061t0001g0064
a0019c0049t0001g0035
a0029c0070t0008g0090
others(3): Show 
a0001c0061t0001g0064
a0019c0049t0001g0035
a0029c0070t0008g0090
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 6 HG01175.hp1
HG02698.hp1
HG02922.hp1
others(3): Show 
HG01175.hp1
HG02698.hp1
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5751+24002G>A
c.5751+24002G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51986307
chr6:51986834 C
C
 A
A
 3 a0001c0001t0001g0062
a0006c0011t0005g0063
a0018c0052t0006g0086
a0001c0001t0001g0062
a0006c0011t0005g0063
a0018c0052t0006g0086
 3 HG02809.hp2
HG03139.hp1
HG03225.hp1
HG02809.hp2
HG03139.hp1
HG03225.hp1
 intron_variant MODIFIER c.5751+23475G>T
c.5751+23475G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51986834
chr6:51986936 A
A
 G
G
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5751+23373T>C
c.5751+23373T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51986936
chr6:51986947 C
C
 G
G
 12 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(9): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(9): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+23362G>C
c.5751+23362G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51986947
chr6:51987069 A
A
 G
G
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+23240T>C
c.5751+23240T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51987069
chr6:51987155 A
A
 G
G
 128 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(125): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 128 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(125): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+23154T>C
c.5751+23154T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51987155
chr6:51987273 T
T
 C
C
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+23036A>G
c.5751+23036A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51987273
chr6:51987360 A
A
 T
T
 131 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(128): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 131 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+22949T>A
c.5751+22949T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51987360
chr6:51987687 A
A
 C
C
 12 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(9): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(9): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+22622T>G
c.5751+22622T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51987687
chr6:51987968 T
T
 C
C
 12 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(9): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(9): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+22341A>G
c.5751+22341A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51987968
chr6:51988148 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5751+22161T>C
c.5751+22161T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51988148
chr6:51988345 C
C
 A
A
 1 a0032c0058t0001g0070
a0032c0058t0001g0070
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.5751+21964G>T
c.5751+21964G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51988345
chr6:51988554 C
C
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+21755G>A
c.5751+21755G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51988554
chr6:51988629 T
T
 C
C
 1 a0001c0022t0001g0129
a0001c0022t0001g0129
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.5751+21680A>G
c.5751+21680A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51988629
chr6:51988702 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+21607T>C
c.5751+21607T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51988702
chr6:51989050 C
C
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+21259G>A
c.5751+21259G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989050
chr6:51989250 G
G
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+21059C>T
c.5751+21059C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989250
chr6:51989337 C
C
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+20972G>T
c.5751+20972G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989337
chr6:51989352 A
A
 G
G
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.5751+20957T>C
c.5751+20957T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989352
chr6:51989428 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+20881C>T
c.5751+20881C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989428
chr6:51989630 GTTA
GTTA
 G
G
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+20676_5751+20
others(9): Show 
c.5751+20676_5751+20678delTAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989630
chr6:51989729 C
C
 T
T
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.5751+20580G>A
c.5751+20580G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989729
chr6:51989827 T
T
 G
G
 1 a0003c0015t0001g0039
a0003c0015t0001g0039
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+20482A>C
c.5751+20482A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989827
chr6:51989901 G
G
 GA
GA
 14 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
others(11): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 14 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(11): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20407dupT
c.5751+20407dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(350): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGG
GAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAAGA
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(363): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC
CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC
CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(366): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGG
GAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGAAAGGAAGGAAAGAAGGA
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(379): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(358): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGG
GAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGA
 1 a0004c0014t0004g0024
a0004c0014t0004g0024
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(371): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(374): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(387): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTC
CTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTT
CCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(366): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGAAAGGAAGGAAAGAAGGA
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(379): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTC
CTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(370): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(383): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC
CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT
CCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(370): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0011c0017t0005g0080
a0011c0017t0005g0080
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(383): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC
CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT
CCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(370): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGAAAGGAAGGAAAGA
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(383): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC
CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT
CCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(378): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(391): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTC
CCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTT
CCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(418): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0001c0093t0001g0127
a0001c0093t0001g0127
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(431): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
TTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCT
TCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC
T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(315): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA
GGAAGAAAGGAAGGAAAGAAGGA
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(328): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT
CCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCT
TTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCC
TTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(319): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAA
GGAAGAAAGGAAGGAAAGAAGGAAGGA
 1 a0002c0021t0004g0130
a0002c0021t0004g0130
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(332): Show 
c.5751+20407_5751+20408insTCCTTCCTTCTTTCCTTCCTTTCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT
CTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCC
TTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCC
TTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
CT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(307): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA
GGAAGGAAGAAAGGA
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(320): Show 
c.5751+20407_5751+20408insTCCTTTCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTCC
TTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTT
CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCC
TTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCC
TCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(311): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA
GGAAGGAAGAAAGGAAGGA
 1 a0001c0022t0001g0129
a0001c0022t0001g0129
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(324): Show 
c.5751+20407_5751+20408insTCCTTCCTTTCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT
CTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCC
TTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCC
CTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(319): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA
GGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(332): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT
CTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCC
TTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCC
TTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
CT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(323): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
AGAAGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0046c0067t0003g0112
a0046c0067t0003g0112
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(336): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTT
CCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCC
TTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCC
TTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
CTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(327): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
AGAAGGAAGGAAGAAAGGAAGGAAAGAAGGAAGGA
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(340): Show 
c.5751+20407_5751+20408insTCCTTCCTTCTTTCCTTCCTTTCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTT
CCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCC
TTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCC
CTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTC
CTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(319): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA
GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
AGAAGGAAGGAAGAAAGGAAGGAAGGA
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(332): Show 
c.5751+20407_5751+20408insTCCTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT
CTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCC
TTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCC
TTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
CT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(422): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAA
GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0029c0070t0008g0090
a0029c0070t0008g0090
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(435): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCT
TCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC
TTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(362): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGAAGGA
 1 a0005c0039t0001g0030
a0005c0039t0001g0030
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(375): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(346): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA
AAGA
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(359): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC
CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC
CTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(346): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA
AAGA
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(359): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC
CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC
CTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(350): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAAGA
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(363): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC
CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC
CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(290): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(303): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCT
CCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTT
CCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(350): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAAGA
 2 a0001c0082t0001g0105
a0016c0090t0001g0120
a0001c0082t0001g0105
a0016c0090t0001g0120
 2 HG01081.hp2
HG02970.hp2
HG01081.hp2
HG02970.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(363): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC
CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC
CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGA
 1 a0002c0004t0003g0126
a0002c0004t0003g0126
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGA
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(358): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGAAGGA
 2 a0001c0002t0001g0107
a0017c0089t0002g0116
a0001c0002t0001g0107
a0017c0089t0002g0116
 2 HG01243.hp2
NA19054.hp1
HG01243.hp2
NA19054.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(371): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC
CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(362): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGAAGGA
 1 a0002c0004t0003g0085
a0002c0004t0003g0085
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(375): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAAGAAGGA
 1 a0005c0040t0001g0029
a0005c0040t0001g0029
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAAGAAGGA
 1 a0006c0078t0005g0104
a0006c0078t0005g0104
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(358): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGAAGGA
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(371): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC
CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(358): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGAAGGA
 1 a0001c0002t0001g0083
a0001c0002t0001g0083
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(371): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC
CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(358): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGA
 2 a0001c0009t0001g0106
a0039c0066t0003g0098
a0001c0009t0001g0106
a0039c0066t0003g0098
 2 HG01261.hp1
HG06807.hp1
HG01261.hp1
HG06807.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(371): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC
CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(362): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGAAGGA
 2 a0002c0020t0003g0084
a0040c0081t0001g0124
a0002c0020t0003g0084
a0040c0081t0001g0124
 2 NA18971.hp1
NA18989.hp2
NA18971.hp1
NA18989.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(375): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(358): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGA
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(371): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC
CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(362): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGAAGGA
 2 a0001c0009t0001g0123
a0002c0080t0002g0121
a0001c0009t0001g0123
a0002c0080t0002g0121
 2 HG02717.hp2
NA19001.hp1
HG02717.hp2
NA19001.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(375): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(362): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGAAAGGAAGGAAAGA
 1 a0013c0095t0014g0122
a0013c0095t0014g0122
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(375): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(366): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGAAAGGAAGGAAAGAAGGA
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(379): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTC
CTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(370): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(383): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC
CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT
CCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGA
 1 a0005c0038t0001g0034
a0005c0038t0001g0034
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(370): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGAAAGGAAGGAAAGAAGGA
 2 a0002c0004t0004g0115
a0005c0037t0001g0038
a0002c0004t0004g0115
a0005c0037t0001g0038
 2 HG01106.hp1
NA19090.hp2
HG01106.hp1
NA19090.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(383): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC
CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT
CCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(362): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGAAGGA
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(375): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(370): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(383): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTC
CTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT
CCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(335): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAA
GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG
AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
GGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGAAGGAAGGA
 2 a0001c0034t0001g0016
a0002c0033t0002g0017
a0001c0034t0001g0016
a0002c0033t0002g0017
 2 HG02040.hp1
NA18747.hp2
HG02040.hp1
NA18747.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(348): Show 
c.5751+20407_5751+20408insTCCTTCCTTCCTTCTTTCCTTCCT
TTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTT
CCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCC
TTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTC
CTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(331): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAA
GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG
AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
GGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(344): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTT
CCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCT
TTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCC
CTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(338): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(351): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCC
TCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCC
TTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(334): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(347): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCC
TCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCC
TTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(398): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAG
GAAGGA
 1 a0006c0076t0005g0088
a0006c0076t0005g0088
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(411): Show 
c.5751+20407_5751+20408insTCCTTCCTTCTTTCCTTCCTTTCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT
CCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCT
CCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(390): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(403): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCT
CCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTT
CCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(394): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAG
GA
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(407): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCT
CCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCT
CCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(338): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(351): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCC
TCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCC
TTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(386): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGA
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(399): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTT
CCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(350): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAAGA
 1 a0003c0015t0001g0039
a0003c0015t0001g0039
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(363): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC
CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC
CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(342): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA
 2 a0003c0007t0001g0049
a0003c0036t0001g0042
a0003c0007t0001g0049
a0003c0036t0001g0042
 2 HG01261.hp2
HG01496.hp1
HG01261.hp2
HG01496.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(355): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCC
CTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCC
TTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(346): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA
AAGA
 3 a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
 3 HG02055.hp1
HG02486.hp2
NA20752.hp2
HG02055.hp1
HG02486.hp2
NA20752.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(359): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC
CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC
CTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGA
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(350): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAAGA
 1 a0004c0006t0003g0040
a0004c0006t0003g0040
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(363): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC
CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC
CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGA
 1 a0003c0012t0001g0025
a0003c0012t0001g0025
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(358): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGA
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(371): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC
CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(362): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAAGAAGGA
 1 a0021c0045t0001g0036
a0021c0045t0001g0036
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(375): Show 
c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(386): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGA
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(399): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTT
CCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(290): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG
GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(303): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCT
CCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTT
CCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(306): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAG
GAAGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
AAAGGAAGGAAAGA
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(319): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTCCC
TCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(354): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAG
GAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA
AGGAAGGAAAGA
 2 a0011c0017t0005g0071
a0032c0058t0001g0070
a0011c0017t0005g0071
a0032c0058t0001g0070
 2 HG02280.hp2
HG03516.hp1
HG02280.hp2
HG03516.hp1
 intron_variant MODIFIER c.5751+20407_5751+20
others(367): Show 
c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC
CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989901 G
G
 GAGGAAGG
others(394): Show 
GAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAG
GAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAAGAAGGAAG
GA
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.5751+20407_5751+20
others(407): Show 
c.5751+20407_5751+20408insTCCTTCCTTCTTTCCTTCCTTTCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT
CCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCT
CCCTCCTTCCTTCCTTCCTTCCTTCCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989901
chr6:51989903 G
G
 GGAAGGAA
others(307): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAAGG
AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG
AAGAAAGGAAGGAAA
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(320): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTT
CCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCT
TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTT
CCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCT
CCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(323): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGG
AAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA
GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG
AAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(336): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCC
TTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT
CCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCT
CCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT
TCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(342): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(355): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCT
CCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCT
CCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(346): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAG
GAAA
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(359): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT
CCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCT
CCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(342): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(355): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCT
CCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCT
CCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(350): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG
GAAGGAAA
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(363): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
CCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCT
CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(346): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAG
GAAA
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(359): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT
CCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCT
CCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(350): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG
GAAGGAAA
 6 a0003c0007t0001g0037
a0003c0013t0001g0052
a0003c0015t0001g0041
others(3): Show 
a0003c0007t0001g0037
a0003c0013t0001g0052
a0003c0015t0001g0041
a0004c0008t0004g0045
a0004c0046t0002g0050
a0023c0044t0001g0044
 6 HG00741.hp2
HG01952.hp1
HG02015.hp2
others(3): Show 
HG00741.hp2
HG01952.hp1
HG02015.hp2
NA19001.hp2
NA19005.hp1
NA20300.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(363): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
CCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCT
CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(358): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGAAAGGAAGGAAA
 1 a0003c0016t0001g0027
a0003c0016t0001g0027
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(371): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCC
TCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(362): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGAAAGGAAGGAAA
 1 a0003c0016t0001g0028
a0003c0016t0001g0028
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(375): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCT
TCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(354): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA
AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
AAAGGAAGGAAA
 1 a0003c0007t0001g0043
a0003c0007t0001g0043
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(367): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT
CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(406): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGAAAGGAAGGAAA
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(419): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTC
CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(338): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 1 a0043c0063t0005g0066
a0043c0063t0005g0066
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(351): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCT
CCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCT
CCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(346): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAG
GAAA
 1 a0001c0061t0001g0064
a0001c0061t0001g0064
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(359): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCT
CCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(350): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAGGGAAGGAAAGAAGGAAGGAAGAAAG
GAAGGAAA
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(363): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT
CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(330): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA
 1 a0008c0053t0016g0069
a0008c0053t0016g0069
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.5751+20405_5751+20
others(343): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTT
CCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(338): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA
 2 a0008c0018t0020g0074
a0009c0056t0001g0073
a0008c0018t0020g0074
a0009c0056t0001g0073
 2 HG03098.hp1
HG03486.hp1
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(351): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCT
CCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCT
CCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(354): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
AAAGGAAGGAAA
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(367): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCC
TCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989903 G
G
 GGAAGGAA
others(350): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG
GAAGGAAA
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.5751+20405_5751+20
others(363): Show 
c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT
CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989903
chr6:51989907 G
G
 GGAAGGAA
others(330): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 2 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0002t0009g0099
a0001c0002t0009g0100
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.5751+20401_5751+20
others(343): Show 
c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTT
CCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989907
chr6:51989907 G
G
 GGAAGGAA
others(350): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAG
GAAGGAAA
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.5751+20401_5751+20
others(363): Show 
c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT
TCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT
CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989907
chr6:51989907 G
G
 GGAAGGAA
others(390): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.5751+20401_5751+20
others(403): Show 
c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCC
CTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCC
CTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989907
chr6:51989907 G
G
 GGAAGGAA
others(394): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGA
AA
 1 a0001c0010t0001g0077
a0001c0010t0001g0077
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.5751+20401_5751+20
others(407): Show 
c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCC
CTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCC
CTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989907
chr6:51989907 G
G
 GGAAGGAA
others(398): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAA
 1 a0001c0010t0001g0078
a0001c0010t0001g0078
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.5751+20401_5751+20
others(411): Show 
c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989907
chr6:51989907 G
G
 GGAAGGAA
others(398): Show 
GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA
AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG
GAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA
AGGAAA
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.5751+20401_5751+20
others(411): Show 
c.5751+20401_5751+20402insTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC
CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC
CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989907
chr6:51989907 G
G
 GGAAGGAA
others(334): Show 
GGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGAAGGA
GGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAA
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA
 1 a0030c0055t0002g0072
a0030c0055t0002g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.5751+20401_5751+20
others(347): Show 
c.5751+20401_5751+20402insTTTCCTTCCTTCCTTCCTTCCTTC
TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC
CTTCTTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCT
CCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCT
CCTTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989907
chr6:51989911 G
G
 GGAAGGAA
others(278): Show 
GGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGAAGGA
GGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG
GAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
 2 a0027c0069t0018g0092
a0028c0071t0012g0093
a0027c0069t0018g0092
a0028c0071t0012g0093
 2 HG00741.hp1
HG02897.hp2
HG00741.hp1
HG02897.hp2
 intron_variant MODIFIER c.5751+20397_5751+20
others(291): Show 
c.5751+20397_5751+20398insTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCC
TCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCC
TTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989911
chr6:51989911 G
G
 GGAAGGAA
others(282): Show 
GGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGAAGGA
GGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG
GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG
GAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA
 2 a0024c0068t0001g0091
a0025c0072t0001g0095
a0024c0068t0001g0091
a0025c0072t0001g0095
 2 HG03225.hp2
HG06807.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+20397_5751+20
others(295): Show 
c.5751+20397_5751+20398insTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT
TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCC
CTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCC
TTCCTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989911
chr6:51989917 A
A
 AGGGAGGG
others(240): Show 
AGGGAGGGAGGGAGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGG
AGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGG
AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGG
AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG
GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGG
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+20391_5751+20
others(253): Show 
c.5751+20391_5751+20392insCCCTCCCTCCCTCCCTCCTTCCTT
CCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTT
CCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCTTCCT
TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC
TCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCT
TCCTTCCCTCCTCCCTCCCTCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989917
chr6:51989923 G
G
 GGAGGGAG
others(106): Show 
GGAGGGAGGGAGGGAGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAG
GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
AGGAAGGAAGGAAA
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+20385_5751+20
others(119): Show 
c.5751+20385_5751+20386insTTTCCTTCCTTCCTTCCTTCCTTC
CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTC
CCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989923
chr6:51989923 GGAAGGAA
others(29): Show 
GGAAGGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 G
G
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.5751+20350_5751+20
others(42): Show 
c.5751+20350_5751+20385delTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989923
chr6:51989925 A
A
 AGGGAGGG
others(86): Show 
AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
GAGGGAGGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGG
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.5751+20383_5751+20
others(99): Show 
c.5751+20383_5751+20384insCCCTCCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTCCTCCCTCCCTCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989925
chr6:51989925 A
A
 AGGGAGGG
others(82): Show 
AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGG
GAGGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGG
 3 a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
 3 NA18975.hp2
NA18989.hp1
NA19090.hp1
NA18975.hp2
NA18989.hp1
NA19090.hp1
 intron_variant MODIFIER c.5751+20383_5751+20
others(95): Show 
c.5751+20383_5751+20384insCCCTCCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTCCCTCCCTCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989925
chr6:51989925 A
A
 AGGGAGGG
others(74): Show 
AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGG
GAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGG
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.5751+20383_5751+20
others(87): Show 
c.5751+20383_5751+20384insCCCTCCCTCCCTCCCTCCTCCCTC
CCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCT
CCCTCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989925
chr6:51989925 A
A
 AGGGAGGG
others(78): Show 
AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGG
GAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGG
 6 a0003c0012t0001g0032
a0004c0014t0004g0033
a0010c0026t0001g0013
others(3): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0010c0026t0001g0013
a0010c0030t0001g0007
a0012c0027t0002g0005
a0014c0024t0001g0004
 6 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(3): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18988.hp2
NA19007.hp1
 intron_variant MODIFIER c.5751+20383_5751+20
others(91): Show 
c.5751+20383_5751+20384insCCCTCCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
CCCTCCCTCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989925
chr6:51989925 A
A
 AGGGAGGG
others(82): Show 
AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGG
GAGGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGG
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.5751+20383_5751+20
others(95): Show 
c.5751+20383_5751+20384insCCCTCCCTCCCTCCCTCCCTCCTC
CCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTCCCTCCCTCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989925
chr6:51989927 G
G
 A
A
 3 a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
 3 HG02965.hp2
HG03098.hp1
HG03486.hp1
HG02965.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.5751+20382C>T
c.5751+20382C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989927
chr6:51989927 GGAAGGAA
others(25): Show 
GGAAGGAAAGAAGGAAGGAAGAAAGGAAGGAAA
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5751+20350_5751+20
others(38): Show 
c.5751+20350_5751+20381delTTTCCTTCCTTTCTTCCTTCCTTC
TTTCCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989927
chr6:51989929 A
A
 G
G
 12 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(9): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(9): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20380T>C
c.5751+20380T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989929
chr6:51989931 G
G
 A
A
 1 a0030c0055t0002g0072
a0030c0055t0002g0072
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.5751+20378C>T
c.5751+20378C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989931
chr6:51989935 A
A
 G
G
 26 a0001c0001t0001g0019
a0001c0032t0001g0075
a0001c0083t0001g0125
others(23): Show 
a0001c0001t0001g0019
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0004g0076
a0002c0092t0004g0002
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
a0030c0055t0002g0072
 26 HG00423.hp2
HG00741.hp1
HG02015.hp1
others(23): Show 
HG00423.hp2
HG00741.hp1
HG02015.hp1
HG02818.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03486.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19007.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20374T>C
c.5751+20374T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989935
chr6:51989945 A
A
 AGGGAGGG
others(8): Show 
AGGGAGGGAGGGAGGG
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+20363_5751+20
others(21): Show 
c.5751+20363_5751+20364insCCCTCCCTCCCTCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989945
chr6:51989947 G
G
 A
A
 5 a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
others(2): Show 
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 5 HG00741.hp1
HG02897.hp2
HG03139.hp1
others(2): Show 
HG00741.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+20362C>T
c.5751+20362C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989947
chr6:51989948 A
A
 G
G
 20 a0001c0001t0001g0019
a0001c0032t0001g0075
a0002c0005t0004g0076
others(17): Show 
a0001c0001t0001g0019
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 20 HG00423.hp2
HG00741.hp1
HG02015.hp1
others(17): Show 
HG00423.hp2
HG00741.hp1
HG02015.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20361T>C
c.5751+20361T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989948
chr6:51989952 G
G
 A
A
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.5751+20357C>T
c.5751+20357C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989952
chr6:51989959 A
A
 G
G
 20 a0001c0001t0001g0019
a0001c0032t0001g0075
a0002c0005t0004g0076
others(17): Show 
a0001c0001t0001g0019
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 20 HG00423.hp2
HG00741.hp1
HG02015.hp1
others(17): Show 
HG00423.hp2
HG00741.hp1
HG02015.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20350T>C
c.5751+20350T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989959
chr6:51989959 AGAAG
AGAAG
 A
A
 5 a0001c0001t0001g0020
a0001c0034t0001g0016
a0002c0005t0002g0018
others(2): Show 
a0001c0001t0001g0020
a0001c0034t0001g0016
a0002c0005t0002g0018
a0002c0033t0002g0017
a0037c0060t0005g0022
 5 HG02040.hp1
HG02055.hp2
HG02922.hp1
others(2): Show 
HG02040.hp1
HG02055.hp2
HG02922.hp1
NA18747.hp2
NA19054.hp2
 intron_variant MODIFIER c.5751+20346_5751+20
others(10): Show 
c.5751+20346_5751+20349delCTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989959
chr6:51989960 G
G
 A
A
 4 a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
others(1): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 4 HG00741.hp1
HG02897.hp2
HG03225.hp2
others(1): Show 
HG00741.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+20349C>T
c.5751+20349C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989960
chr6:51989963 G
G
 A
A
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.5751+20346C>T
c.5751+20346C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989963
chr6:51989969 A
A
 AGGG
AGGG
 12 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(9): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(9): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20339_5751+20
others(9): Show 
c.5751+20339_5751+20340insCCC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989969
chr6:51989969 A
A
 G
G
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+20340T>C
c.5751+20340T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989969
chr6:51989973 A
A
 G
G
 14 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
others(11): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 14 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(11): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20336T>C
c.5751+20336T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989973
chr6:51989977 A
A
 G
G
 14 a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
others(11): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 14 HG00423.hp2
HG02015.hp1
HG03669.hp1
others(11): Show 
HG00423.hp2
HG02015.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+20332T>C
c.5751+20332T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51989977
chr6:51990031 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+20278G>A
c.5751+20278G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990031
chr6:51990039 GTTAT
GTTAT
 G
G
 29 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(26): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 29 HG00741.hp2
HG01071.hp2
HG01081.hp1
others(26): Show 
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+20266_5751+20
others(10): Show 
c.5751+20266_5751+20269delATAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990039
chr6:51990174 A
A
 G
G
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+20135T>C
c.5751+20135T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990174
chr6:51990206 A
A
 T
T
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.5751+20103T>A
c.5751+20103T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990206
chr6:51990378 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.5751+19931A>G
c.5751+19931A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990378
chr6:51990643 A
A
 G
G
 3 a0001c0001t0001g0062
a0006c0011t0005g0063
a0018c0052t0006g0086
a0001c0001t0001g0062
a0006c0011t0005g0063
a0018c0052t0006g0086
 3 HG02809.hp2
HG03139.hp1
HG03225.hp1
HG02809.hp2
HG03139.hp1
HG03225.hp1
 intron_variant MODIFIER c.5751+19666T>C
c.5751+19666T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990643
chr6:51990695 C
C
 T
T
 3 a0001c0001t0001g0062
a0006c0011t0005g0063
a0018c0052t0006g0086
a0001c0001t0001g0062
a0006c0011t0005g0063
a0018c0052t0006g0086
 3 HG02809.hp2
HG03139.hp1
HG03225.hp1
HG02809.hp2
HG03139.hp1
HG03225.hp1
 intron_variant MODIFIER c.5751+19614G>A
c.5751+19614G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990695
chr6:51990845 A
A
 G
G
 13 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(10): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
 13 HG00423.hp2
HG02015.hp1
HG03139.hp1
others(10): Show 
HG00423.hp2
HG02015.hp1
HG03139.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+19464T>C
c.5751+19464T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51990845
chr6:51991091 GCAT
GCAT
 G
G
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+19215_5751+19
others(9): Show 
c.5751+19215_5751+19217delATG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51991091
chr6:51991129 TG
TG
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+19179delC
c.5751+19179delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51991129
chr6:51991268 A
A
 G
G
 1 a0002c0021t0004g0130
a0002c0021t0004g0130
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.5751+19041T>C
c.5751+19041T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51991268
chr6:51991576 A
A
 G
G
 57 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(54): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
 57 HG00423.hp1
HG00738.hp1
HG00738.hp2
others(54): Show 
HG00423.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20300.hp1
 intron_variant MODIFIER c.5751+18733T>C
c.5751+18733T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51991576
chr6:51991717 G
G
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+18592C>G
c.5751+18592C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51991717
chr6:51991880 T
T
 A
A
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.5751+18429A>T
c.5751+18429A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51991880
chr6:51992024 A
A
 G
G
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+18285T>C
c.5751+18285T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992024
chr6:51992199 A
A
 G
G
 13 a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
others(10): Show 
a0003c0012t0001g0032
a0004c0014t0004g0033
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
 13 HG00423.hp2
HG02015.hp1
HG03139.hp1
others(10): Show 
HG00423.hp2
HG02015.hp1
HG03139.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+18110T>C
c.5751+18110T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992199
chr6:51992219 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+18090A>G
c.5751+18090A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992219
chr6:51992229 C
C
 CATT
CATT
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+18077_5751+18
others(9): Show 
c.5751+18077_5751+18079dupAAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992229
chr6:51992237 TTAG
TTAG
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+18069_5751+18
others(9): Show 
c.5751+18069_5751+18071delCTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992237
chr6:51992319 A
A
 G
G
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+17990T>C
c.5751+17990T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992319
chr6:51992545 A
A
 G
G
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.5751+17764T>C
c.5751+17764T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992545
chr6:51992590 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+17719A>G
c.5751+17719A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992590
chr6:51992654 G
G
 A
A
 3 a0001c0002t0001g0107
a0002c0080t0002g0121
a0040c0081t0001g0124
a0001c0002t0001g0107
a0002c0080t0002g0121
a0040c0081t0001g0124
 3 NA18971.hp1
NA19001.hp1
NA19054.hp1
NA18971.hp1
NA19001.hp1
NA19054.hp1
 intron_variant MODIFIER c.5751+17655C>T
c.5751+17655C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992654
chr6:51992762 T
T
 C
C
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5751+17547A>G
c.5751+17547A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51992762
chr6:51993027 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5751+17282G>A
c.5751+17282G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993027
chr6:51993069 G
G
 A
A
 14 a0001c0001t0001g0062
a0003c0012t0001g0032
a0004c0014t0004g0033
others(11): Show 
a0001c0001t0001g0062
a0003c0012t0001g0032
a0004c0014t0004g0033
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 14 HG00423.hp2
HG02015.hp1
HG02809.hp2
others(11): Show 
HG00423.hp2
HG02015.hp1
HG02809.hp2
HG03225.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+17240C>T
c.5751+17240C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993069
chr6:51993327 C
C
 A
A
 1 a0001c0022t0001g0129
a0001c0022t0001g0129
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.5751+16982G>T
c.5751+16982G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993327
chr6:51993472 C
C
 T
T
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.5751+16837G>A
c.5751+16837G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993472
chr6:51993508 T
T
 C
C
 1 a0010c0026t0001g0013
a0010c0026t0001g0013
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.5751+16801A>G
c.5751+16801A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993508
chr6:51993764 C
C
 T
T
 2 a0003c0048t0001g0047
a0004c0006t0002g0048
a0003c0048t0001g0047
a0004c0006t0002g0048
 2 HG02055.hp1
HG02486.hp2
HG02055.hp1
HG02486.hp2
 intron_variant MODIFIER c.5751+16545G>A
c.5751+16545G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993764
chr6:51993789 TCAGC
TCAGC
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+16516_5751+16
others(10): Show 
c.5751+16516_5751+16519delGCTG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993789
chr6:51993829 A
A
 G
G
 4 a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
others(1): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 4 HG00741.hp1
HG02897.hp2
HG03225.hp2
others(1): Show 
HG00741.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+16480T>C
c.5751+16480T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51993829
chr6:51994095 G
G
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+16214C>A
c.5751+16214C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994095
chr6:51994138 C
C
 CT
CT
 41 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0117
others(38): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0117
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0015c0025t0001g0031
a0016c0090t0001g0120
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0042c0035t0006g0059
a0044c0075t0001g0119
 41 HG00738.hp2
HG00741.hp1
HG00741.hp2
others(38): Show 
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG02970.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+16170dupA
c.5751+16170dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994138
chr6:51994159 C
C
 G
G
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+16150G>C
c.5751+16150G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994159
chr6:51994159 C
C
 T
T
 56 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(53): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
 56 HG00423.hp1
HG00738.hp1
HG00738.hp2
others(53): Show 
HG00423.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20300.hp1
 intron_variant MODIFIER c.5751+16150G>A
c.5751+16150G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994159
chr6:51994301 A
A
 G
G
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.5751+16008T>C
c.5751+16008T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994301
chr6:51994603 G
G
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+15706C>T
c.5751+15706C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994603
chr6:51994658 T
T
 C
C
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+15651A>G
c.5751+15651A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994658
chr6:51994901 G
G
 A
A
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.5751+15408C>T
c.5751+15408C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994901
chr6:51994908 C
C
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+15401G>A
c.5751+15401G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994908
chr6:51994957 G
G
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+15352C>G
c.5751+15352C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51994957
chr6:51995018 C
C
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+15291G>A
c.5751+15291G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995018
chr6:51995159 T
T
 C
C
 18 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(15): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0012t0001g0032
a0004c0014t0004g0033
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
 18 HG00423.hp2
HG02015.hp1
HG02257.hp2
others(15): Show 
HG00423.hp2
HG02015.hp1
HG02257.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+15150A>G
c.5751+15150A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995159
chr6:51995188 G
G
 GAAC
GAAC
 7 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
others(4): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0015t0001g0041
a0004c0008t0003g0003
a0004c0008t0004g0045
a0023c0044t0001g0044
 7 HG00741.hp2
HG01175.hp2
HG01496.hp2
others(4): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp2
HG01952.hp1
HG02015.hp2
NA19001.hp2
NA20300.hp2
 intron_variant MODIFIER c.5751+15118_5751+15
others(9): Show 
c.5751+15118_5751+15120dupGTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995188
chr6:51995425 T
T
 C
C
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+14884A>G
c.5751+14884A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995425
chr6:51995480 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5751+14829C>T
c.5751+14829C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995480
chr6:51995766 G
G
 A
A
 16 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(13): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
 16 HG02257.hp2
HG02809.hp2
HG03139.hp1
others(13): Show 
HG02257.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+14543C>T
c.5751+14543C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995766
chr6:51995853 T
T
 G
G
 38 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(35): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 38 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(35): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5751+14456A>C
c.5751+14456A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995853
chr6:51995996 T
T
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+14313A>T
c.5751+14313A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51995996
chr6:51996008 A
A
 AT
AT
 20 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(17): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
a0029c0070t0008g0090
 20 HG01175.hp1
HG02055.hp2
HG02257.hp2
others(17): Show 
HG01175.hp1
HG02055.hp2
HG02257.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+14300dupA
c.5751+14300dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996008
chr6:51996092 A
A
 G
G
 2 a0001c0001t0001g0058
a0018c0052t0006g0086
a0001c0001t0001g0058
a0018c0052t0006g0086
 2 HG02257.hp2
HG03139.hp1
HG02257.hp2
HG03139.hp1
 intron_variant MODIFIER c.5751+14217T>C
c.5751+14217T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996092
chr6:51996137 C
C
 A
A
 1 a0040c0081t0001g0124
a0040c0081t0001g0124
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.5751+14172G>T
c.5751+14172G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996137
chr6:51996160 G
G
 C
C
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5751+14149C>G
c.5751+14149C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996160
chr6:51996169 C
C
 CT
CT
 50 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0062
others(47): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0062
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0006c0011t0005g0063
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0046c0067t0003g0112
 50 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(47): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03704.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+14139dupA
c.5751+14139dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996169
chr6:51996222 G
G
 C
C
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.5751+14087C>G
c.5751+14087C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996222
chr6:51996582 T
T
 C
C
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+13727A>G
c.5751+13727A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996582
chr6:51996887 A
A
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+13422T>G
c.5751+13422T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996887
chr6:51996906 C
C
 T
T
 1 a0002c0004t0004g0115
a0002c0004t0004g0115
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.5751+13403G>A
c.5751+13403G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996906
chr6:51996912 C
C
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+13397G>A
c.5751+13397G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996912
chr6:51996967 G
G
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+13342C>G
c.5751+13342C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996967
chr6:51996970 A
A
 G
G
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5751+13339T>C
c.5751+13339T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51996970
chr6:51997862 G
G
 A
A
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+12447C>T
c.5751+12447C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51997862
chr6:51997876 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5751+12433C>T
c.5751+12433C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51997876
chr6:51997927 A
A
 G
G
 2 a0001c0001t0001g0058
a0018c0052t0006g0086
a0001c0001t0001g0058
a0018c0052t0006g0086
 2 HG02257.hp2
HG03139.hp1
HG02257.hp2
HG03139.hp1
 intron_variant MODIFIER c.5751+12382T>C
c.5751+12382T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51997927
chr6:51998056 C
C
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+12253G>A
c.5751+12253G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51998056
chr6:51998169 C
C
 T
T
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+12140G>A
c.5751+12140G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51998169
chr6:51998269 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+12040G>A
c.5751+12040G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51998269
chr6:51998580 A
A
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5751+11729T>G
c.5751+11729T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51998580
chr6:51998708 C
C
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+11601G>T
c.5751+11601G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51998708
chr6:51998840 T
T
 A
A
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+11469A>T
c.5751+11469A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51998840
chr6:51998923 A
A
 G
G
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.5751+11386T>C
c.5751+11386T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51998923
chr6:51999359 G
G
 T
T
 2 a0001c0001t0001g0058
a0018c0052t0006g0086
a0001c0001t0001g0058
a0018c0052t0006g0086
 2 HG02257.hp2
HG03139.hp1
HG02257.hp2
HG03139.hp1
 intron_variant MODIFIER c.5751+10950C>A
c.5751+10950C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51999359
chr6:51999360 T
T
 G
G
 2 a0001c0001t0001g0058
a0018c0052t0006g0086
a0001c0001t0001g0058
a0018c0052t0006g0086
 2 HG02257.hp2
HG03139.hp1
HG02257.hp2
HG03139.hp1
 intron_variant MODIFIER c.5751+10949A>C
c.5751+10949A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51999360
chr6:51999365 G
G
 T
T
 2 a0001c0001t0001g0058
a0018c0052t0006g0086
a0001c0001t0001g0058
a0018c0052t0006g0086
 2 HG02257.hp2
HG03139.hp1
HG02257.hp2
HG03139.hp1
 intron_variant MODIFIER c.5751+10944C>A
c.5751+10944C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51999365
chr6:51999447 C
C
 T
T
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.5751+10862G>A
c.5751+10862G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51999447
chr6:51999805 A
A
 C
C
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.5751+10504T>G
c.5751+10504T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51999805
chr6:51999850 A
A
 G
G
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5751+10459T>C
c.5751+10459T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51999850
chr6:51999997 T
T
 C
C
 2 a0001c0001t0001g0058
a0018c0052t0006g0086
a0001c0001t0001g0058
a0018c0052t0006g0086
 2 HG02257.hp2
HG03139.hp1
HG02257.hp2
HG03139.hp1
 intron_variant MODIFIER c.5751+10312A>G
c.5751+10312A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 51999997
chr6:52000233 A
A
 G
G
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+10076T>C
c.5751+10076T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52000233
chr6:52000427 A
A
 G
G
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+9882T>C
c.5751+9882T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52000427
chr6:52000578 T
T
 C
C
 16 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(13): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
 16 HG02257.hp2
HG02809.hp2
HG03139.hp1
others(13): Show 
HG02257.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+9731A>G
c.5751+9731A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52000578
chr6:52000951 T
T
 A
A
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.5751+9358A>T
c.5751+9358A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52000951
chr6:52001060 T
T
 A
A
 13 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(10): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0046c0067t0003g0112
 13 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(10): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG04204.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.5751+9249A>T
c.5751+9249A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001060
chr6:52001194 A
A
 G
G
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5751+9115T>C
c.5751+9115T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001194
chr6:52001249 A
A
 G
G
 2 a0001c0001t0001g0058
a0018c0052t0006g0086
a0001c0001t0001g0058
a0018c0052t0006g0086
 2 HG02257.hp2
HG03139.hp1
HG02257.hp2
HG03139.hp1
 intron_variant MODIFIER c.5751+9060T>C
c.5751+9060T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001249
chr6:52001278 C
C
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+9031G>A
c.5751+9031G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001278
chr6:52001432 CT
CT
 C
C
 5 a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
others(2): Show 
a0001c0002t0009g0100
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 5 HG02897.hp1
HG02922.hp2
HG02976.hp1
others(2): Show 
HG02897.hp1
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5751+8876delA
c.5751+8876delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001432
chr6:52001516 G
G
 A
A
 38 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(35): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 38 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(35): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+8793C>T
c.5751+8793C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001516
chr6:52001575 G
G
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+8734C>T
c.5751+8734C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001575
chr6:52001577 C
C
 G
G
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+8732G>C
c.5751+8732G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001577
chr6:52001703 T
T
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+8606A>G
c.5751+8606A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001703
chr6:52001773 G
G
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+8536C>A
c.5751+8536C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001773
chr6:52001885 A
A
 G
G
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.5751+8424T>C
c.5751+8424T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001885
chr6:52001982 A
A
 T
T
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.5751+8327T>A
c.5751+8327T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52001982
chr6:52002018 C
C
 T
T
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.5751+8291G>A
c.5751+8291G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002018
chr6:52002026 A
A
 G
G
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 7 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(4): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5751+8283T>C
c.5751+8283T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002026
chr6:52002054 T
T
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+8255A>G
c.5751+8255A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002054
chr6:52002084 A
A
 C
C
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.5751+8225T>G
c.5751+8225T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002084
chr6:52002196 AG
AG
 A
A
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+8112delC
c.5751+8112delC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002196
chr6:52002315 G
G
 C
C
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+7994C>G
c.5751+7994C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002315
chr6:52002327 G
G
 C
C
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+7982C>G
c.5751+7982C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002327
chr6:52002713 G
G
 C
C
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+7596C>G
c.5751+7596C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002713
chr6:52002956 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5751+7353A>G
c.5751+7353A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002956
chr6:52002958 T
T
 G
G
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+7351A>C
c.5751+7351A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52002958
chr6:52003212 A
A
 C
C
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.5751+7097T>G
c.5751+7097T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52003212
chr6:52003289 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+7020G>T
c.5751+7020G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52003289
chr6:52003367 C
C
 T
T
 12 a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
others(9): Show 
a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG02809.hp2
HG03225.hp1
HG03669.hp1
others(9): Show 
HG02809.hp2
HG03225.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+6942G>A
c.5751+6942G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52003367
chr6:52003585 A
A
 G
G
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+6724T>C
c.5751+6724T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52003585
chr6:52003760 T
T
 C
C
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.5751+6549A>G
c.5751+6549A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52003760
chr6:52003992 T
T
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5751+6317A>G
c.5751+6317A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52003992
chr6:52004226 G
G
 A
A
 2 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0002t0009g0099
a0001c0002t0009g0100
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.5751+6083C>T
c.5751+6083C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52004226
chr6:52004498 T
T
 C
C
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+5811A>G
c.5751+5811A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52004498
chr6:52004665 G
G
 A
A
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5751+5644C>T
c.5751+5644C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52004665
chr6:52004963 G
G
 A
A
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5751+5346C>T
c.5751+5346C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52004963
chr6:52005164 G
G
 A
A
 5 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
others(2): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
a0002c0005t0002g0018
a0002c0033t0002g0017
 5 HG02040.hp1
HG02055.hp2
NA18747.hp2
others(2): Show 
HG02040.hp1
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.5751+5145C>T
c.5751+5145C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52005164
chr6:52005242 T
T
 C
C
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+5067A>G
c.5751+5067A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52005242
chr6:52005566 C
C
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+4743G>A
c.5751+4743G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52005566
chr6:52005794 G
G
 A
A
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+4515C>T
c.5751+4515C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52005794
chr6:52005807 G
G
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+4502C>G
c.5751+4502C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52005807
chr6:52005835 G
G
 A
A
 1 a0006c0011t0005g0063
a0006c0011t0005g0063
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.5751+4474C>T
c.5751+4474C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52005835
chr6:52006188 A
A
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5751+4121T>A
c.5751+4121T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006188
chr6:52006197 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+4112C>T
c.5751+4112C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006197
chr6:52006307 T
T
 C
C
 40 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(37): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 40 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(37): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+4002A>G
c.5751+4002A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006307
chr6:52006353 T
T
 TTTG
TTTG
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5751+3953_5751+395
others(7): Show 
c.5751+3953_5751+3955dupCAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006353
chr6:52006371 G
G
 GTTGT
GTTGT
 50 a0001c0001t0001g0062
a0001c0032t0001g0075
a0001c0082t0001g0105
others(47): Show 
a0001c0001t0001g0062
a0001c0032t0001g0075
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0037c0060t0005g0022
 50 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(47): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+3934_5751+393
others(8): Show 
c.5751+3934_5751+3937dupACAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006371
chr6:52006371 G
G
 GTTGTTGT
others(4): Show 
GTTGTTGTTTGT
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5751+3937_5751+393
others(15): Show 
c.5751+3937_5751+3938insACAAACAACAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006371
chr6:52006594 C
C
 G
G
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.5751+3715G>C
c.5751+3715G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006594
chr6:52006596 C
C
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+3713G>A
c.5751+3713G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006596
chr6:52006597 G
G
 A
A
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.5751+3712C>T
c.5751+3712C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006597
chr6:52006792 C
C
 G
G
 38 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(35): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 38 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(35): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+3517G>C
c.5751+3517G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006792
chr6:52006796 G
G
 A
A
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5751+3513C>T
c.5751+3513C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52006796
chr6:52007061 C
C
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5751+3248G>A
c.5751+3248G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52007061
chr6:52007085 C
C
 T
T
 3 a0001c0001t0001g0060
a0001c0082t0001g0105
a0002c0020t0008g0110
a0001c0001t0001g0060
a0001c0082t0001g0105
a0002c0020t0008g0110
 3 HG02965.hp1
HG02970.hp2
HG03471.hp1
HG02965.hp1
HG02970.hp2
HG03471.hp1
 intron_variant MODIFIER c.5751+3224G>A
c.5751+3224G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52007085
chr6:52007176 T
T
 C
C
 1 a0041c0088t0006g0114
a0041c0088t0006g0114
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.5751+3133A>G
c.5751+3133A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52007176
chr6:52007189 T
T
 C
C
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.5751+3120A>G
c.5751+3120A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52007189
chr6:52007209 T
T
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5751+3100A>C
c.5751+3100A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52007209
chr6:52007430 C
C
 A
A
 1 a0003c0041t0001g0046
a0003c0041t0001g0046
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.5751+2879G>T
c.5751+2879G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52007430
chr6:52007899 TC
TC
 T
T
 38 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(35): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 38 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(35): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5751+2409delG
c.5751+2409delG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52007899
chr6:52008024 G
G
 A
A
 1 a0003c0013t0001g0052
a0003c0013t0001g0052
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.5751+2285C>T
c.5751+2285C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52008024
chr6:52008181 C
C
 T
T
 5 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
others(2): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0004c0008t0003g0003
a0023c0044t0001g0044
 5 HG00741.hp2
HG01175.hp2
HG01496.hp2
others(2): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp2
HG01952.hp1
NA20300.hp2
 intron_variant MODIFIER c.5751+2128G>A
c.5751+2128G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52008181
chr6:52008294 C
C
 T
T
 65 a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
others(62): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0079t0007g0089
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0042c0035t0006g0059
a0045c0084t0006g0087
a0047c0051t0004g0056
 65 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+2015G>A
c.5751+2015G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52008294
chr6:52008433 T
T
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+1876A>T
c.5751+1876A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52008433
chr6:52008458 G
G
 T
T
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5751+1851C>A
c.5751+1851C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52008458
chr6:52008816 G
G
 A
A
 8 a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0094t0001g0131
others(5): Show 
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0094t0001g0131
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0092t0004g0002
a0046c0067t0003g0112
 8 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(5): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG02155.hp1
HG02809.hp1
HG04204.hp2
NA18971.hp2
NA19003.hp2
 intron_variant MODIFIER c.5751+1493C>T
c.5751+1493C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52008816
chr6:52008865 A
A
 G
G
 1 a0001c0094t0001g0131
a0001c0094t0001g0131
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.5751+1444T>C
c.5751+1444T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52008865
chr6:52009003 T
T
 G
G
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5751+1306A>C
c.5751+1306A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009003
chr6:52009015 G
G
 C
C
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.5751+1294C>G
c.5751+1294C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009015
chr6:52009095 G
G
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+1214C>A
c.5751+1214C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009095
chr6:52009111 G
G
 A
A
 1 a0042c0035t0006g0059
a0042c0035t0006g0059
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.5751+1198C>T
c.5751+1198C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009111
chr6:52009292 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+1017C>T
c.5751+1017C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009292
chr6:52009299 T
T
 A
A
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5751+1010A>T
c.5751+1010A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009299
chr6:52009416 G
G
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5751+893C>G
c.5751+893C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009416
chr6:52009916 T
T
 A
A
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.5751+393A>T
c.5751+393A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009916
chr6:52009918 T
T
 G
G
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.5751+391A>C
c.5751+391A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009918
chr6:52009919 C
C
 T
T
 1 a0022c0042t0002g0051
a0022c0042t0002g0051
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.5751+390G>A
c.5751+390G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009919
chr6:52009947 T
T
 G
G
 8 a0001c0009t0001g0106
a0002c0004t0003g0126
a0002c0077t0002g0102
others(5): Show 
a0001c0009t0001g0106
a0002c0004t0003g0126
a0002c0077t0002g0102
a0013c0095t0014g0122
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0044c0075t0001g0119
 8 HG00423.hp1
HG01106.hp2
HG01255.hp2
others(5): Show 
HG00423.hp1
HG01106.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG03239.hp1
HG03704.hp1
NA19007.hp2
 intron_variant MODIFIER c.5751+362A>C
c.5751+362A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009947
chr6:52009954 C
C
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5751+355G>T
c.5751+355G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 35/66 chr6 52009954
chr6:52010501 A
A
 G
G
 3 a0001c0001t0001g0062
a0006c0011t0005g0063
a0045c0084t0006g0087
a0001c0001t0001g0062
a0006c0011t0005g0063
a0045c0084t0006g0087
 3 HG02809.hp2
HG03041.hp1
HG03225.hp1
HG02809.hp2
HG03041.hp1
HG03225.hp1
 intron_variant MODIFIER c.5601-42T>C
c.5601-42T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52010501
chr6:52010650 C
C
 G
G
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.5601-191G>C
c.5601-191G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52010650
chr6:52010650 C
C
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5601-191G>A
c.5601-191G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52010650
chr6:52010654 C
C
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5601-195G>T
c.5601-195G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52010654
chr6:52010804 G
G
 A
A
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.5601-345C>T
c.5601-345C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52010804
chr6:52010873 G
G
 A
A
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5601-414C>T
c.5601-414C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52010873
chr6:52011092 A
A
 G
G
 55 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(52): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0002g0021
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 55 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(52): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-633T>C
c.5601-633T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011092
chr6:52011250 G
G
 A
A
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.5601-791C>T
c.5601-791C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011250
chr6:52011373 T
T
 C
C
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-914A>G
c.5601-914A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011373
chr6:52011469 G
G
 A
A
 34 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(31): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 34 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-1010C>T
c.5601-1010C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011469
chr6:52011579 C
C
 T
T
 36 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(33): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-1120G>A
c.5601-1120G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011579
chr6:52011614 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5601-1155G>A
c.5601-1155G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011614
chr6:52011680 T
T
 G
G
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5601-1221A>C
c.5601-1221A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011680
chr6:52011738 C
C
 T
T
 2 a0001c0019t0001g0118
a0040c0081t0001g0124
a0001c0019t0001g0118
a0040c0081t0001g0124
 2 NA18964.hp1
NA18971.hp1
NA18964.hp1
NA18971.hp1
 intron_variant MODIFIER c.5601-1279G>A
c.5601-1279G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011738
chr6:52011747 A
A
 G
G
 1 a0032c0058t0001g0070
a0032c0058t0001g0070
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.5601-1288T>C
c.5601-1288T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011747
chr6:52011863 C
C
 G
G
 36 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(33): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-1404G>C
c.5601-1404G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011863
chr6:52011924 C
C
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5601-1465G>A
c.5601-1465G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52011924
chr6:52012010 T
T
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5601-1551A>G
c.5601-1551A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012010
chr6:52012108 G
G
 A
A
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.5601-1649C>T
c.5601-1649C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012108
chr6:52012282 G
G
 A
A
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.5601-1823C>T
c.5601-1823C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012282
chr6:52012369 C
C
 T
T
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.5601-1910G>A
c.5601-1910G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012369
chr6:52012510 C
C
 T
T
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.5601-2051G>A
c.5601-2051G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012510
chr6:52012622 G
G
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5601-2163C>A
c.5601-2163C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012622
chr6:52012918 C
C
 T
T
 36 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(33): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-2459G>A
c.5601-2459G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012918
chr6:52012986 A
A
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5601-2527T>G
c.5601-2527T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012986
chr6:52012997 A
A
 G
G
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5601-2538T>C
c.5601-2538T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52012997
chr6:52013256 A
A
 G
G
 55 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(52): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0002g0021
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 55 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(52): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-2797T>C
c.5601-2797T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013256
chr6:52013397 C
C
 T
T
 7 a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
others(4): Show 
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
 7 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(4): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
 intron_variant MODIFIER c.5601-2938G>A
c.5601-2938G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013397
chr6:52013578 TATAAGCA
others(14): Show 
TATAAGCATATATATATGCAAC
 T
T
 1 a0007c0003t0001g0011
a0007c0003t0001g0011
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.5601-3140_5601-312
others(25): Show 
c.5601-3140_5601-3120delGTTGCATATATATATGCTTAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013578
chr6:52013632 GTACAGA
GTACAGA
 G
G
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5601-3179_5601-317
others(10): Show 
c.5601-3179_5601-3174delTCTGTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013632
chr6:52013673 A
A
 G
G
 36 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(33): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5601-3214T>C
c.5601-3214T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013673
chr6:52013768 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5601-3309T>C
c.5601-3309T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013768
chr6:52013868 C
C
 T
T
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5601-3409G>A
c.5601-3409G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013868
chr6:52013936 C
C
 T
T
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5600+3474G>A
c.5600+3474G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013936
chr6:52013987 A
A
 G
G
 48 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(45): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 48 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(45): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+3423T>C
c.5600+3423T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52013987
chr6:52014033 T
T
 C
C
 12 a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
others(9): Show 
a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG02809.hp2
HG03225.hp1
HG03669.hp1
others(9): Show 
HG02809.hp2
HG03225.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5600+3377A>G
c.5600+3377A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014033
chr6:52014694 CTGGATAG
others(1): Show 
CTGGATAGA
 C
C
 4 a0003c0013t0001g0052
a0003c0036t0001g0042
a0004c0064t0003g0053
others(1): Show 
a0003c0013t0001g0052
a0003c0036t0001g0042
a0004c0064t0003g0053
a0022c0042t0002g0051
 4 HG01496.hp1
HG02015.hp2
HG03239.hp2
others(1): Show 
HG01496.hp1
HG02015.hp2
HG03239.hp2
HG03669.hp2
 intron_variant MODIFIER c.5600+2708_5600+271
others(12): Show 
c.5600+2708_5600+2715delTCTATCCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014694
chr6:52014694 CTGGATAG
others(5): Show 
CTGGATAGATGGA
 C
C
 13 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
others(10): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0046t0002g0050
a0023c0044t0001g0044
 13 HG00741.hp2
HG01175.hp2
HG01496.hp2
others(10): Show 
HG00741.hp2
HG01175.hp2
HG01496.hp2
HG01952.hp1
HG02055.hp1
HG02486.hp2
HG02698.hp2
HG03704.hp2
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.5600+2704_5600+271
others(16): Show 
c.5600+2704_5600+2715delTCCATCTATCCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014694
chr6:52014694 CTGGATAG
others(9): Show 
CTGGATAGATGGATGGA
 C
C
 10 a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
others(7): Show 
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0004c0006t0003g0040
a0004c0014t0004g0024
a0004c0014t0004g0033
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
 10 HG00423.hp2
HG01081.hp1
HG01433.hp2
others(7): Show 
HG00423.hp2
HG01081.hp1
HG01433.hp2
HG02015.hp1
HG02683.hp2
HG02698.hp1
HG04204.hp1
HG04228.hp1
NA18747.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+2700_5600+271
others(20): Show 
c.5600+2700_5600+2715delTCCATCCATCTATCCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014694
chr6:52014694 CTGGATAG
others(13): Show 
CTGGATAGATGGATGGATGGA
 C
C
 2 a0003c0013t0001g0054
a0004c0047t0019g0015
a0003c0013t0001g0054
a0004c0047t0019g0015
 2 HG02257.hp1
NA19240.hp2
HG02257.hp1
NA19240.hp2
 intron_variant MODIFIER c.5600+2696_5600+271
others(24): Show 
c.5600+2696_5600+2715delTCCATCCATCCATCTATCCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014694
chr6:52014694 CTGGATAG
others(25): Show 
CTGGATAGATGGATGGATGGATGGATGGATGGA
 C
C
 1 a0004c0006t0002g0055
a0004c0006t0002g0055
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.5600+2684_5600+271
others(36): Show 
c.5600+2684_5600+2715delTCCATCCATCCATCCATCCATCCATC
TATCCA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014694
chr6:52014696 GGATA
GGATA
 G
G
 2 a0003c0007t0001g0049
a0004c0043t0015g0057
a0003c0007t0001g0049
a0004c0043t0015g0057
 2 HG01071.hp2
HG01261.hp2
HG01071.hp2
HG01261.hp2
 intron_variant MODIFIER c.5600+2710_5600+271
others(8): Show 
c.5600+2710_5600+2713delTATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014696
chr6:52014700 A
A
 AGATG
AGATG
 5 a0001c0034t0001g0016
a0002c0091t0007g0133
a0008c0053t0016g0069
others(2): Show 
a0001c0034t0001g0016
a0002c0091t0007g0133
a0008c0053t0016g0069
a0011c0017t0005g0071
a0032c0058t0001g0070
 5 HG02040.hp1
HG02280.hp2
HG02965.hp2
others(2): Show 
HG02040.hp1
HG02280.hp2
HG02965.hp2
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.5600+2706_5600+270
others(8): Show 
c.5600+2706_5600+2709dupCATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014700
chr6:52014700 AGATG
AGATG
 A
A
 13 a0001c0009t0001g0106
a0001c0082t0001g0105
a0002c0004t0003g0126
others(10): Show 
a0001c0009t0001g0106
a0001c0082t0001g0105
a0002c0004t0003g0126
a0002c0020t0008g0110
a0002c0033t0002g0017
a0009c0054t0001g0082
a0009c0087t0001g0111
a0011c0017t0005g0080
a0013c0095t0014g0122
a0024c0068t0001g0091
a0026c0073t0005g0094
a0039c0066t0003g0098
a0048c0023t0017g0081
 13 HG01243.hp1
HG01261.hp1
HG02622.hp1
others(10): Show 
HG01243.hp1
HG01261.hp1
HG02622.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp1
HG03704.hp1
HG06807.hp1
NA18747.hp2
 intron_variant MODIFIER c.5600+2706_5600+270
others(8): Show 
c.5600+2706_5600+2709delCATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014700
chr6:52014700 AGATGGAT
others(1): Show 
AGATGGATG
 A
A
 19 a0001c0001t0001g0058
a0001c0002t0001g0113
a0001c0010t0001g0077
others(16): Show 
a0001c0001t0001g0058
a0001c0002t0001g0113
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0094t0001g0131
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0065t0007g0068
a0002c0077t0002g0102
a0005c0037t0001g0038
a0006c0011t0005g0134
a0025c0072t0001g0095
a0029c0070t0008g0090
a0033c0059t0008g0001
a0036c0074t0003g0108
a0044c0075t0001g0119
a0047c0051t0004g0056
 19 HG01071.hp1
HG01106.hp1
HG01106.hp2
others(16): Show 
HG01071.hp1
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01255.hp2
HG02040.hp2
HG02257.hp2
HG02683.hp1
HG02809.hp1
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03453.hp2
HG03471.hp2
HG06807.hp2
NA18964.hp1
NA19007.hp2
NA19090.hp2
NA19240.hp1
 intron_variant MODIFIER c.5600+2702_5600+270
others(12): Show 
c.5600+2702_5600+2709delCATCCATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014700
chr6:52014700 AGATGGAT
others(5): Show 
AGATGGATGGATG
 A
A
 22 a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0117
others(19): Show 
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0022t0001g0132
a0001c0093t0001g0127
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0092t0004g0002
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0016c0090t0001g0120
a0017c0089t0002g0116
a0028c0071t0012g0093
a0041c0088t0006g0114
a0046c0067t0003g0112
 22 HG00738.hp1
HG00738.hp2
HG00741.hp1
others(19): Show 
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01243.hp2
HG01433.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG03098.hp2
HG03225.hp1
HG04204.hp2
NA18971.hp2
NA19003.hp2
NA19005.hp2
 intron_variant MODIFIER c.5600+2698_5600+270
others(16): Show 
c.5600+2698_5600+2709delCATCCATCCATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014700
chr6:52014700 AGATGGAT
others(9): Show 
AGATGGATGGATGGATG
 A
A
 21 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0009g0099
others(18): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0009g0099
a0001c0002t0009g0100
a0002c0004t0003g0085
a0002c0020t0003g0084
a0002c0080t0002g0121
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0027c0069t0018g0092
a0038c0062t0002g0065
a0040c0081t0001g0124
a0042c0035t0006g0059
 21 HG02155.hp2
HG02896.hp2
HG02897.hp1
others(18): Show 
HG02155.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03669.hp1
HG04184.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19007.hp1
NA19054.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5600+2694_5600+270
others(20): Show 
c.5600+2694_5600+2709delCATCCATCCATCCATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014700
chr6:52014700 AGATGGAT
others(13): Show 
AGATGGATGGATGGATGGATG
 A
A
 6 a0001c0032t0001g0075
a0001c0061t0001g0064
a0002c0005t0004g0076
others(3): Show 
a0001c0032t0001g0075
a0001c0061t0001g0064
a0002c0005t0004g0076
a0018c0052t0006g0086
a0037c0060t0005g0022
a0043c0063t0005g0066
 6 HG02922.hp1
HG03139.hp1
HG03453.hp1
others(3): Show 
HG02922.hp1
HG03139.hp1
HG03453.hp1
HG04184.hp1
HG04228.hp2
NA20300.hp1
 intron_variant MODIFIER c.5600+2690_5600+270
others(24): Show 
c.5600+2690_5600+2709delCATCCATCCATCCATCCATC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014700
chr6:52014789 C
C
 CATGG
CATGG
 49 a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
others(46): Show 
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0065t0007g0068
a0002c0080t0002g0121
a0002c0092t0004g0002
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0040t0001g0029
a0006c0078t0005g0104
a0009c0087t0001g0111
a0016c0090t0001g0120
a0017c0089t0002g0116
a0025c0072t0001g0095
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0046c0067t0003g0112
 49 HG00423.hp1
HG00738.hp1
HG00738.hp2
others(46): Show 
HG00423.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.5600+2617_5600+262
others(8): Show 
c.5600+2617_5600+2620dupCCAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014789
chr6:52014789 C
C
 CATGGATG
others(1): Show 
CATGGATGG
 19 a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
others(16): Show 
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0091t0007g0133
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0037c0060t0005g0022
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
 19 HG00741.hp1
HG01255.hp1
HG01255.hp2
others(16): Show 
HG00741.hp1
HG01255.hp1
HG01255.hp2
HG02897.hp2
HG02922.hp1
HG03041.hp1
HG03225.hp2
HG03540.hp2
HG03704.hp1
HG04184.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19007.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.5600+2613_5600+262
others(12): Show 
c.5600+2613_5600+2620dupCCATCCAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014789
chr6:52014789 C
C
 CATGGATG
others(5): Show 
CATGGATGGATGG
 4 a0006c0076t0005g0088
a0007c0003t0001g0012
a0026c0073t0005g0094
others(1): Show 
a0006c0076t0005g0088
a0007c0003t0001g0012
a0026c0073t0005g0094
a0029c0070t0008g0090
 4 HG01175.hp1
HG02486.hp1
HG02717.hp1
others(1): Show 
HG01175.hp1
HG02486.hp1
HG02717.hp1
NA18975.hp2
 intron_variant MODIFIER c.5600+2609_5600+262
others(16): Show 
c.5600+2609_5600+2620dupCCATCCATCCAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014789
chr6:52014789 C
C
 CATGGATG
others(9): Show 
CATGGATGGATGGATGG
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.5600+2605_5600+262
others(20): Show 
c.5600+2605_5600+2620dupCCATCCATCCATCCAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014789
chr6:52014789 CATGG
CATGG
 C
C
 33 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(30): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 33 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(30): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+2617_5600+262
others(8): Show 
c.5600+2617_5600+2620delCCAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014789
chr6:52014789 CATGGATG
others(1): Show 
CATGGATGG
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5600+2613_5600+262
others(12): Show 
c.5600+2613_5600+2620delCCATCCAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014789
chr6:52014864 C
C
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5600+2546G>A
c.5600+2546G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014864
chr6:52014884 G
G
 A
A
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5600+2526C>T
c.5600+2526C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52014884
chr6:52015110 T
T
 G
G
 34 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(31): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 34 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+2300A>C
c.5600+2300A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015110
chr6:52015376 G
G
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5600+2034C>T
c.5600+2034C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015376
chr6:52015407 C
C
 T
T
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.5600+2003G>A
c.5600+2003G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015407
chr6:52015514 T
T
 A
A
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.5600+1896A>T
c.5600+1896A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015514
chr6:52015548 A
A
 G
G
 48 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(45): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 48 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(45): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+1862T>C
c.5600+1862T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015548
chr6:52015597 G
G
 C
C
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.5600+1813C>G
c.5600+1813C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015597
chr6:52015715 T
T
 G
G
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5600+1695A>C
c.5600+1695A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015715
chr6:52015756 A
A
 G
G
 16 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(13): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0018c0052t0006g0086
 16 HG02257.hp2
HG02809.hp2
HG03139.hp1
others(13): Show 
HG02257.hp2
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5600+1654T>C
c.5600+1654T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015756
chr6:52015816 T
T
 C
C
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.5600+1594A>G
c.5600+1594A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015816
chr6:52015851 C
C
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5600+1559G>A
c.5600+1559G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015851
chr6:52015894 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.5600+1516A>G
c.5600+1516A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015894
chr6:52015923 C
C
 T
T
 2 a0003c0012t0001g0025
a0004c0014t0004g0024
a0003c0012t0001g0025
a0004c0014t0004g0024
 2 HG01081.hp1
HG04204.hp1
HG01081.hp1
HG04204.hp1
 intron_variant MODIFIER c.5600+1487G>A
c.5600+1487G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015923
chr6:52015926 T
T
 C
C
 1 a0012c0027t0002g0005
a0012c0027t0002g0005
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.5600+1484A>G
c.5600+1484A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015926
chr6:52015993 C
C
 T
T
 65 a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
others(62): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0079t0007g0089
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0042c0035t0006g0059
a0045c0084t0006g0087
a0047c0051t0004g0056
 65 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(62): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+1417G>A
c.5600+1417G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52015993
chr6:52016310 G
G
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5600+1100C>T
c.5600+1100C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016310
chr6:52016364 G
G
 A
A
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+1046C>T
c.5600+1046C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016364
chr6:52016505 A
A
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.5600+905T>C
c.5600+905T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016505
chr6:52016590 C
C
 T
T
 1 a0007c0003t0001g0012
a0007c0003t0001g0012
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.5600+820G>A
c.5600+820G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016590
chr6:52016635 CA
CA
 C
C
 40 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(37): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0031c0057t0013g0067
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 40 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(37): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.5600+774delT
c.5600+774delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016635
chr6:52016635 CAA
CAA
 C
C
 12 a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
others(9): Show 
a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG02809.hp2
HG03225.hp1
HG03669.hp1
others(9): Show 
HG02809.hp2
HG03225.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5600+773_5600+774d
others(4): Show 
c.5600+773_5600+774delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016635
chr6:52016635 CAAA
CAAA
 C
C
 35 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(32): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 35 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(32): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+772_5600+774d
others(5): Show 
c.5600+772_5600+774delTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016635
chr6:52016650 A
A
 G
G
 12 a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
others(9): Show 
a0001c0001t0001g0062
a0006c0011t0005g0063
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 12 HG02809.hp2
HG03225.hp1
HG03669.hp1
others(9): Show 
HG02809.hp2
HG03225.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.5600+760T>C
c.5600+760T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016650
chr6:52016853 G
G
 A
A
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.5600+557C>T
c.5600+557C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016853
chr6:52016910 G
G
 T
T
 36 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(33): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+500C>A
c.5600+500C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016910
chr6:52016917 C
C
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5600+493G>A
c.5600+493G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016917
chr6:52016955 G
G
 A
A
 3 a0001c0001t0001g0062
a0006c0011t0005g0063
a0009c0087t0001g0111
a0001c0001t0001g0062
a0006c0011t0005g0063
a0009c0087t0001g0111
 3 HG01243.hp1
HG02809.hp2
HG03225.hp1
HG01243.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5600+455C>T
c.5600+455C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52016955
chr6:52017277 C
C
 G
G
 38 a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0032t0001g0075
others(35): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
 38 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(35): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02970.hp1
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5600+133G>C
c.5600+133G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 34/66 chr6 52017277
chr6:52017758 T
T
 A
A
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5381-129A>T
c.5381-129A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52017758
chr6:52017759 A
A
 T
T
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.5381-130T>A
c.5381-130T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52017759
chr6:52017882 A
A
 G
G
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5381-253T>C
c.5381-253T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52017882
chr6:52017948 C
C
 G
G
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.5381-319G>C
c.5381-319G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52017948
chr6:52018224 C
C
 T
T
 121 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(118): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 121 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(118): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5381-595G>A
c.5381-595G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52018224
chr6:52018675 C
C
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.5381-1046G>A
c.5381-1046G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52018675
chr6:52018900 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.5381-1271T>C
c.5381-1271T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52018900
chr6:52019115 G
G
 T
T
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5381-1486C>A
c.5381-1486C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019115
chr6:52019244 G
G
 A
A
 41 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(38): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 41 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(38): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5381-1615C>T
c.5381-1615C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019244
chr6:52019256 G
G
 C
C
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5381-1627C>G
c.5381-1627C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019256
chr6:52019331 G
G
 A
A
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5381-1702C>T
c.5381-1702C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019331
chr6:52019495 C
C
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5381-1866G>T
c.5381-1866G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019495
chr6:52019542 C
C
 T
T
 2 a0003c0048t0001g0047
a0004c0006t0002g0048
a0003c0048t0001g0047
a0004c0006t0002g0048
 2 HG02055.hp1
HG02486.hp2
HG02055.hp1
HG02486.hp2
 intron_variant MODIFIER c.5381-1913G>A
c.5381-1913G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019542
chr6:52019653 C
C
 T
T
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5381-2024G>A
c.5381-2024G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019653
chr6:52019678 C
C
 T
T
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5381-2049G>A
c.5381-2049G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019678
chr6:52019793 A
A
 G
G
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.5381-2164T>C
c.5381-2164T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52019793
chr6:52020044 T
T
 C
C
 13 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(10): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0046c0067t0003g0112
 13 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(10): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG04204.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.5381-2415A>G
c.5381-2415A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52020044
chr6:52020221 G
G
 A
A
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5380+2580C>T
c.5380+2580C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52020221
chr6:52020553 C
C
 T
T
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5380+2248G>A
c.5380+2248G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52020553
chr6:52020703 G
G
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.5380+2098C>A
c.5380+2098C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52020703
chr6:52020894 T
T
 C
C
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5380+1907A>G
c.5380+1907A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52020894
chr6:52020914 GA
GA
 G
G
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5380+1886delT
c.5380+1886delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52020914
chr6:52020939 C
C
 T
T
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5380+1862G>A
c.5380+1862G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52020939
chr6:52021124 G
G
 C
C
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5380+1677C>G
c.5380+1677C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52021124
chr6:52021129 A
A
 T
T
 1 a0047c0051t0004g0056
a0047c0051t0004g0056
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.5380+1672T>A
c.5380+1672T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52021129
chr6:52021510 T
T
 A
A
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.5380+1291A>T
c.5380+1291A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52021510
chr6:52021729 T
T
 G
G
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.5380+1072A>C
c.5380+1072A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52021729
chr6:52022021 CT
CT
 C
C
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5380+779delA
c.5380+779delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52022021
chr6:52022182 C
C
 T
T
 10 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(7): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 10 HG00741.hp1
HG01175.hp1
HG02257.hp2
others(7): Show 
HG00741.hp1
HG01175.hp1
HG02257.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp2
 intron_variant MODIFIER c.5380+619G>A
c.5380+619G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52022182
chr6:52022216 G
G
 A
A
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.5380+585C>T
c.5380+585C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52022216
chr6:52022326 T
T
 G
G
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.5380+475A>C
c.5380+475A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52022326
chr6:52022494 T
T
 C
C
 1 a0023c0044t0001g0044
a0023c0044t0001g0044
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.5380+307A>G
c.5380+307A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52022494
chr6:52022621 T
T
 G
G
 45 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0002g0021
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 45 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(42): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5380+180A>C
c.5380+180A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 33/66 chr6 52022621
chr6:52023279 C
C
 G
G
 1 a0035c0086t0001g0109
a0035c0086t0001g0109
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.5237-335G>C
c.5237-335G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52023279
chr6:52023414 A
A
 G
G
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.5237-470T>C
c.5237-470T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52023414
chr6:52023518 T
T
 C
C
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.5237-574A>G
c.5237-574A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52023518
chr6:52023725 C
C
 T
T
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.5237-781G>A
c.5237-781G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52023725
chr6:52023912 T
T
 C
C
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5236+662A>G
c.5236+662A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52023912
chr6:52024075 G
G
 T
T
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5236+499C>A
c.5236+499C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52024075
chr6:52024099 C
C
 T
T
 130 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(127): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 130 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(127): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5236+475G>A
c.5236+475G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52024099
chr6:52024183 T
T
 A
A
 129 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(126): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 129 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(126): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5236+391A>T
c.5236+391A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52024183
chr6:52024264 A
A
 T
T
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5236+310T>A
c.5236+310T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52024264
chr6:52024301 A
A
 T
T
 2 a0003c0013t0001g0052
a0004c0008t0004g0045
a0003c0013t0001g0052
a0004c0008t0004g0045
 2 HG02015.hp2
NA19001.hp2
HG02015.hp2
NA19001.hp2
 intron_variant MODIFIER c.5236+273T>A
c.5236+273T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52024301
chr6:52024560 T
T
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.5236+14A>G
c.5236+14A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 32/66 chr6 52024560
chr6:52026213 T
T
 C
C
 45 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0002g0021
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 45 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(42): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3629-32A>G
c.3629-32A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52026213
chr6:52026299 C
C
 T
T
 3 a0001c0001t0001g0061
a0009c0087t0001g0111
a0042c0035t0006g0059
a0001c0001t0001g0061
a0009c0087t0001g0111
a0042c0035t0006g0059
 3 HG01243.hp1
HG02451.hp1
HG02970.hp1
HG01243.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.3629-118G>A
c.3629-118G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52026299
chr6:52026529 T
T
 C
C
 44 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(41): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 44 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(41): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3629-348A>G
c.3629-348A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52026529
chr6:52026540 A
A
 G
G
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3629-359T>C
c.3629-359T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52026540
chr6:52026607 A
A
 G
G
 44 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(41): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 44 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(41): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3629-426T>C
c.3629-426T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52026607
chr6:52026755 T
T
 A
A
 45 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
others(42): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0032t0001g0075
a0002c0005t0002g0021
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 45 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(42): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3629-574A>T
c.3629-574A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52026755
chr6:52026976 T
T
 C
C
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3629-795A>G
c.3629-795A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52026976
chr6:52027106 G
G
 A
A
 1 a0001c0002t0001g0107
a0001c0002t0001g0107
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.3628+723C>T
c.3628+723C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52027106
chr6:52027150 C
C
 T
T
 1 a0029c0070t0008g0090
a0029c0070t0008g0090
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.3628+679G>A
c.3628+679G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52027150
chr6:52027532 C
C
 CA
CA
 34 a0001c0002t0001g0107
a0003c0007t0001g0037
a0003c0007t0001g0043
others(31): Show 
a0001c0002t0001g0107
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0040c0081t0001g0124
 34 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18971.hp1
NA19001.hp2
NA19005.hp1
NA19054.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3628+296dupT
c.3628+296dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52027532
chr6:52027532 CA
CA
 C
C
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
a0002c0033t0002g0017
a0002c0079t0007g0089
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
 12 HG01255.hp1
HG02040.hp1
HG02280.hp2
others(9): Show 
HG01255.hp1
HG02040.hp1
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.3628+296delT
c.3628+296delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52027532
chr6:52027547 A
A
 AG
AG
 7 a0001c0001t0001g0058
a0024c0068t0001g0091
a0025c0072t0001g0095
others(4): Show 
a0001c0001t0001g0058
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 7 HG00741.hp1
HG01175.hp1
HG02257.hp2
others(4): Show 
HG00741.hp1
HG01175.hp1
HG02257.hp2
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.3628+281_3628+282i
others(3): Show 
c.3628+281_3628+282insC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52027547
chr6:52027550 G
G
 A
A
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.3628+279C>T
c.3628+279C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 31/66 chr6 52027550
chr6:52028383 A
A
 T
T
 3 a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
a0001c0001t0001g0019
a0001c0001t0001g0020
a0002c0033t0002g0017
 3 NA18747.hp2
NA18988.hp1
NA19054.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.3365-32T>A
c.3365-32T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52028383
chr6:52028387 G
G
 A
A
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.3365-36C>T
c.3365-36C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52028387
chr6:52028462 T
T
 C
C
 5 a0001c0093t0001g0127
a0005c0037t0001g0038
a0005c0038t0001g0034
others(2): Show 
a0001c0093t0001g0127
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
 5 HG01074.hp2
HG01106.hp1
HG01433.hp1
others(2): Show 
HG01074.hp2
HG01106.hp1
HG01433.hp1
HG02818.hp2
HG03098.hp2
 intron_variant MODIFIER c.3365-111A>G
c.3365-111A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52028462
chr6:52028519 A
A
 AT
AT
 45 a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0002g0021
others(42): Show 
a0001c0032t0001g0075
a0001c0083t0001g0125
a0002c0005t0002g0021
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 45 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(42): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3365-169dupA
c.3365-169dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52028519
chr6:52028650 T
T
 C
C
 34 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(31): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 34 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3365-299A>G
c.3365-299A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52028650
chr6:52028720 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.3365-369G>A
c.3365-369G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52028720
chr6:52029069 T
T
 C
C
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.3365-718A>G
c.3365-718A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029069
chr6:52029217 A
A
 C
C
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.3365-866T>G
c.3365-866T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029217
chr6:52029229 G
G
 GA
GA
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3365-879dupT
c.3365-879dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029229
chr6:52029286 T
T
 A
A
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.3365-935A>T
c.3365-935A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029286
chr6:52029303 C
C
 A
A
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.3365-952G>T
c.3365-952G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029303
chr6:52029409 C
C
 G
G
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 7 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(4): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.3365-1058G>C
c.3365-1058G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029409
chr6:52029641 A
A
 G
G
 34 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(31): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 34 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3365-1290T>C
c.3365-1290T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029641
chr6:52029782 G
G
 T
T
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3365-1431C>A
c.3365-1431C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029782
chr6:52029840 T
T
 C
C
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3365-1489A>G
c.3365-1489A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029840
chr6:52029844 C
C
 T
T
 1 a0012c0029t0002g0010
a0012c0029t0002g0010
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.3365-1493G>A
c.3365-1493G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52029844
chr6:52030003 G
G
 A
A
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.3365-1652C>T
c.3365-1652C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52030003
chr6:52030103 G
G
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3365-1752C>A
c.3365-1752C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52030103
chr6:52030133 C
C
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.3365-1782G>A
c.3365-1782G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52030133
chr6:52030157 A
A
 G
G
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3365-1806T>C
c.3365-1806T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52030157
chr6:52030395 C
C
 G
G
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.3365-2044G>C
c.3365-2044G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52030395
chr6:52030914 A
A
 T
T
 38 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(35): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 38 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(35): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.3364+2116T>A
c.3364+2116T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52030914
chr6:52030945 G
G
 A
A
 1 a0029c0070t0008g0090
a0029c0070t0008g0090
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.3364+2085C>T
c.3364+2085C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52030945
chr6:52031198 A
A
 G
G
 34 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(31): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 34 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3364+1832T>C
c.3364+1832T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52031198
chr6:52031202 G
G
 T
T
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.3364+1828C>A
c.3364+1828C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52031202
chr6:52031619 C
C
 T
T
 33 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(30): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 33 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(30): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3364+1411G>A
c.3364+1411G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52031619
chr6:52031771 G
G
 T
T
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3364+1259C>A
c.3364+1259C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52031771
chr6:52031886 T
T
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.3364+1144A>G
c.3364+1144A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52031886
chr6:52031897 G
G
 C
C
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.3364+1133C>G
c.3364+1133C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52031897
chr6:52032568 C
C
 T
T
 1 a0001c0002t0001g0113
a0001c0002t0001g0113
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.3364+462G>A
c.3364+462G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52032568
chr6:52032767 C
C
 T
T
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3364+263G>A
c.3364+263G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 29/66 chr6 52032767
chr6:52033346 C
C
 G
G
 4 a0003c0007t0001g0049
a0003c0041t0001g0046
a0003c0048t0001g0047
others(1): Show 
a0003c0007t0001g0049
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
 4 HG01261.hp2
HG02055.hp1
HG02486.hp2
others(1): Show 
HG01261.hp2
HG02055.hp1
HG02486.hp2
NA20752.hp2
 intron_variant MODIFIER c.3229-181G>C
c.3229-181G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52033346
chr6:52033357 C
C
 T
T
 7 a0003c0007t0001g0049
a0003c0036t0001g0042
a0003c0041t0001g0046
others(4): Show 
a0003c0007t0001g0049
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0047t0019g0015
a0004c0064t0003g0053
 7 HG01261.hp2
HG01496.hp1
HG02055.hp1
others(4): Show 
HG01261.hp2
HG01496.hp1
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG03669.hp2
NA20752.hp2
 intron_variant MODIFIER c.3229-192G>A
c.3229-192G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52033357
chr6:52033466 T
T
 A
A
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3229-301A>T
c.3229-301A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52033466
chr6:52033640 T
T
 A
A
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.3229-475A>T
c.3229-475A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52033640
chr6:52033919 A
A
 G
G
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3229-754T>C
c.3229-754T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52033919
chr6:52033940 C
C
 G
G
 56 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(53): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
 56 HG00423.hp1
HG00738.hp1
HG00738.hp2
others(53): Show 
HG00423.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA20300.hp1
 intron_variant MODIFIER c.3229-775G>C
c.3229-775G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52033940
chr6:52034061 G
G
 A
A
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3229-896C>T
c.3229-896C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52034061
chr6:52034107 A
A
 G
G
 34 a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
others(31): Show 
a0001c0001t0001g0058
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 34 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3229-942T>C
c.3229-942T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52034107
chr6:52034179 GA
GA
 G
G
 75 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(72): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0118
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0008c0053t0016g0069
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0044c0075t0001g0119
 75 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(72): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3229-1015delT
c.3229-1015delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52034179
chr6:52034193 A
A
 G
G
 42 a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
others(39): Show 
a0001c0001t0001g0058
a0001c0032t0001g0075
a0002c0005t0004g0076
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 42 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(39): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02897.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3229-1028T>C
c.3229-1028T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52034193
chr6:52034879 A
A
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.3228+712T>G
c.3228+712T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52034879
chr6:52034995 G
G
 A
A
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.3228+596C>T
c.3228+596C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52034995
chr6:52035026 A
A
 G
G
 78 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(75): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0079t0007g0089
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0042c0035t0006g0059
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 78 HG00423.hp2
HG00738.hp1
HG00741.hp1
others(75): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3228+565T>C
c.3228+565T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52035026
chr6:52035244 T
T
 A
A
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.3228+347A>T
c.3228+347A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52035244
chr6:52035561 G
G
 A
A
 1 a0001c0061t0001g0064
a0001c0061t0001g0064
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.3228+30C>T
c.3228+30C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 28/66 chr6 52035561
chr6:52035816 TGAAACTC
others(4): Show 
TGAAACTCCTTA
 T
T
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.3098-106_3098-96de
others(12): Show 
c.3098-106_3098-96delTAAGGAGTTTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52035816
chr6:52035885 C
C
 G
G
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.3098-164G>C
c.3098-164G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52035885
chr6:52036553 G
G
 A
A
 2 a0003c0012t0001g0032
a0004c0014t0004g0033
a0003c0012t0001g0032
a0004c0014t0004g0033
 2 HG00423.hp2
HG02015.hp1
HG00423.hp2
HG02015.hp1
 intron_variant MODIFIER c.3098-832C>T
c.3098-832C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52036553
chr6:52036644 G
G
 C
C
 33 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(30): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 33 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(30): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3098-923C>G
c.3098-923C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52036644
chr6:52036652 G
G
 A
A
 102 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(99): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0047c0051t0004g0056
 102 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(99): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3098-931C>T
c.3098-931C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52036652
chr6:52036739 A
A
 C
C
 19 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(16): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0091t0007g0133
a0002c0092t0004g0002
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
a0046c0067t0003g0112
 19 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(16): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG02922.hp1
HG03041.hp2
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG04204.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
NA20300.hp1
 intron_variant MODIFIER c.3098-1018T>G
c.3098-1018T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52036739
chr6:52036836 C
C
 T
T
 1 a0036c0074t0003g0108
a0036c0074t0003g0108
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.3098-1115G>A
c.3098-1115G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52036836
chr6:52036899 T
T
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.3098-1178A>G
c.3098-1178A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52036899
chr6:52037372 T
T
 C
C
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.3098-1651A>G
c.3098-1651A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52037372
chr6:52037501 A
A
 G
G
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.3098-1780T>C
c.3098-1780T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52037501
chr6:52037574 C
C
 G
G
 4 a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
others(1): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0027c0069t0018g0092
a0028c0071t0012g0093
 4 HG00741.hp1
HG02897.hp2
HG03225.hp2
others(1): Show 
HG00741.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.3098-1853G>C
c.3098-1853G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52037574
chr6:52037730 T
T
 C
C
 95 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(92): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 95 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(92): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3098-2009A>G
c.3098-2009A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52037730
chr6:52037882 A
A
 G
G
 1 a0035c0086t0001g0109
a0035c0086t0001g0109
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.3098-2161T>C
c.3098-2161T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52037882
chr6:52037953 T
T
 C
C
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 7 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(4): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.3098-2232A>G
c.3098-2232A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52037953
chr6:52038374 CA
CA
 C
C
 40 a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
others(37): Show 
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0010c0028t0001g0009
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 40 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(37): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp2
 intron_variant MODIFIER c.3098-2654delT
c.3098-2654delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52038374
chr6:52038474 G
G
 A
A
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.3098-2753C>T
c.3098-2753C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52038474
chr6:52038968 A
A
 G
G
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.3098-3247T>C
c.3098-3247T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52038968
chr6:52038971 T
T
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.3098-3250A>G
c.3098-3250A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52038971
chr6:52039102 T
T
 C
C
 1 a0025c0072t0001g0095
a0025c0072t0001g0095
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.3098-3381A>G
c.3098-3381A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52039102
chr6:52039127 G
G
 C
C
 1 a0002c0020t0003g0084
a0002c0020t0003g0084
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.3098-3406C>G
c.3098-3406C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52039127
chr6:52039243 G
G
 C
C
 39 a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
others(36): Show 
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 39 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(36): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.3098-3522C>G
c.3098-3522C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52039243
chr6:52039338 T
T
 C
C
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.3097+3521A>G
c.3097+3521A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52039338
chr6:52039338 TCATGGGG
TCATGGGG
 T
T
 39 a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
others(36): Show 
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 39 HG00423.hp1
HG00738.hp2
HG01074.hp2
others(36): Show 
HG00423.hp1
HG00738.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.3097+3514_3097+352
others(11): Show 
c.3097+3514_3097+3520delCCCCATG
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52039338
chr6:52039419 C
C
 T
T
 1 a0002c0020t0008g0110
a0002c0020t0008g0110
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.3097+3440G>A
c.3097+3440G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52039419
chr6:52039549 G
G
 A
A
 1 a0003c0036t0001g0042
a0003c0036t0001g0042
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.3097+3310C>T
c.3097+3310C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52039549
chr6:52040007 G
G
 T
T
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.3097+2852C>A
c.3097+2852C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040007
chr6:52040152 T
T
 C
C
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.3097+2707A>G
c.3097+2707A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040152
chr6:52040341 C
C
 T
T
 1 a0001c0032t0001g0075
a0001c0032t0001g0075
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.3097+2518G>A
c.3097+2518G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040341
chr6:52040474 A
A
 G
G
 92 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(89): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
 92 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(89): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3097+2385T>C
c.3097+2385T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040474
chr6:52040475 C
C
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.3097+2384G>A
c.3097+2384G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040475
chr6:52040490 T
T
 C
C
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.3097+2369A>G
c.3097+2369A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040490
chr6:52040563 G
G
 T
T
 32 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(29): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 32 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(29): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3097+2296C>A
c.3097+2296C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040563
chr6:52040755 T
T
 C
C
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.3097+2104A>G
c.3097+2104A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52040755
chr6:52041018 T
T
 A
A
 36 a0001c0001t0001g0061
a0003c0007t0001g0037
a0003c0007t0001g0043
others(33): Show 
a0001c0001t0001g0061
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0009c0087t0001g0111
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02970.hp1
HG03139.hp1
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3097+1841A>T
c.3097+1841A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041018
chr6:52041055 C
C
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.3097+1804G>T
c.3097+1804G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041055
chr6:52041284 C
C
 T
T
 7 a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
others(4): Show 
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
 7 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(4): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp1
 intron_variant MODIFIER c.3097+1575G>A
c.3097+1575G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041284
chr6:52041299 A
A
 T
T
 1 a0026c0073t0005g0094
a0026c0073t0005g0094
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.3097+1560T>A
c.3097+1560T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041299
chr6:52041363 G
G
 C
C
 1 a0002c0020t0003g0084
a0002c0020t0003g0084
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.3097+1496C>G
c.3097+1496C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041363
chr6:52041394 T
T
 C
C
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 7 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(4): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.3097+1465A>G
c.3097+1465A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041394
chr6:52041810 T
T
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.3097+1049A>T
c.3097+1049A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041810
chr6:52041897 T
T
 C
C
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.3097+962A>G
c.3097+962A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041897
chr6:52041950 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.3097+909C>T
c.3097+909C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52041950
chr6:52042181 T
T
 C
C
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.3097+678A>G
c.3097+678A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52042181
chr6:52042364 C
C
 T
T
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.3097+495G>A
c.3097+495G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52042364
chr6:52042500 G
G
 A
A
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.3097+359C>T
c.3097+359C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52042500
chr6:52042844 C
C
 A
A
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.3097+15G>T
c.3097+15G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 27/66 chr6 52042844
chr6:52044057 C
C
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.2716-327G>A
c.2716-327G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044057
chr6:52044112 T
T
 C
C
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2716-382A>G
c.2716-382A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044112
chr6:52044177 C
C
 G
G
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.2716-447G>C
c.2716-447G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044177
chr6:52044222 C
C
 T
T
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.2716-492G>A
c.2716-492G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044222
chr6:52044283 G
G
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2716-553C>A
c.2716-553C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044283
chr6:52044727 T
T
 C
C
 13 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(10): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
a0046c0067t0003g0112
 13 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(10): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.2715+239A>G
c.2715+239A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044727
chr6:52044796 C
C
 T
T
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.2715+170G>A
c.2715+170G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044796
chr6:52044925 G
G
 C
C
 1 a0009c0087t0001g0111
a0009c0087t0001g0111
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.2715+41C>G
c.2715+41C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 25/66 chr6 52044925
chr6:52045127 C
C
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2593-39G>T
c.2593-39G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 24/66 chr6 52045127
chr6:52045323 A
A
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2593-235T>G
c.2593-235T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 24/66 chr6 52045323
chr6:52045473 T
T
 C
C
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.2593-385A>G
c.2593-385A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 24/66 chr6 52045473
chr6:52045937 A
A
 AT
AT
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0117
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0002t0001g0117
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
a0004c0008t0011g0026
a0046c0067t0003g0112
 15 HG00738.hp1
HG00738.hp2
HG01071.hp1
others(12): Show 
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.2592+66dupA
c.2592+66dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 24/66 chr6 52045937
chr6:52046353 C
C
 T
T
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.2408-165G>A
c.2408-165G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52046353
chr6:52046505 G
G
 A
A
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.2408-317C>T
c.2408-317C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52046505
chr6:52046560 C
C
 T
T
 37 a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
others(34): Show 
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 37 HG00423.hp1
HG00738.hp2
HG01081.hp2
others(34): Show 
HG00423.hp1
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.2408-372G>A
c.2408-372G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52046560
chr6:52046609 C
C
 T
T
 40 a0001c0061t0001g0064
a0003c0007t0001g0037
a0003c0007t0001g0043
others(37): Show 
a0001c0061t0001g0064
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 40 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(37): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2408-421G>A
c.2408-421G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52046609
chr6:52047022 G
G
 A
A
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2408-834C>T
c.2408-834C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047022
chr6:52047431 T
T
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2407+1061A>C
c.2407+1061A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047431
chr6:52047440 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2407+1052G>A
c.2407+1052G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047440
chr6:52047441 C
C
 T
T
 43 a0001c0032t0001g0075
a0001c0061t0001g0064
a0002c0005t0004g0076
others(40): Show 
a0001c0032t0001g0075
a0001c0061t0001g0064
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 43 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(40): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp1
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2407+1051G>A
c.2407+1051G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047441
chr6:52047443 T
T
 G
G
 15 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0091t0007g0133
a0002c0092t0004g0002
a0046c0067t0003g0112
 15 HG00738.hp1
HG01071.hp1
HG01074.hp1
others(12): Show 
HG00738.hp1
HG01071.hp1
HG01074.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG03453.hp2
HG03540.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.2407+1049A>C
c.2407+1049A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047443
chr6:52047500 G
G
 A
A
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 7 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(4): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.2407+992C>T
c.2407+992C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047500
chr6:52047667 G
G
 T
T
 34 a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
others(31): Show 
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 34 HG00423.hp1
HG00738.hp2
HG01081.hp2
others(31): Show 
HG00423.hp1
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.2407+825C>A
c.2407+825C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047667
chr6:52047696 T
T
 C
C
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.2407+796A>G
c.2407+796A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047696
chr6:52047779 C
C
 A
A
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2407+713G>T
c.2407+713G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047779
chr6:52047926 T
T
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2407+566A>G
c.2407+566A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52047926
chr6:52048049 T
T
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.2407+443A>G
c.2407+443A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52048049
chr6:52048118 C
C
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.2407+374G>A
c.2407+374G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52048118
chr6:52048424 T
T
 C
C
 1 a0001c0002t0001g0117
a0001c0002t0001g0117
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.2407+68A>G
c.2407+68A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52048424
chr6:52048439 T
T
 C
C
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.2407+53A>G
c.2407+53A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52048439
chr6:52048442 G
G
 A
A
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2407+50C>T
c.2407+50C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52048442
chr6:52048450 A
A
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2407+42T>G
c.2407+42T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 23/66 chr6 52048450
chr6:52048708 G
G
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2280-89C>G
c.2280-89C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52048708
chr6:52048708 G
G
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2280-89C>A
c.2280-89C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52048708
chr6:52049218 T
T
 C
C
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.2280-599A>G
c.2280-599A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52049218
chr6:52049233 C
C
 T
T
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.2280-614G>A
c.2280-614G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52049233
chr6:52049248 C
C
 T
T
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 7 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(4): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.2280-629G>A
c.2280-629G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52049248
chr6:52049270 T
T
 C
C
 1 a0040c0081t0001g0124
a0040c0081t0001g0124
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.2280-651A>G
c.2280-651A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52049270
chr6:52049402 A
A
 G
G
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2279+755T>C
c.2279+755T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52049402
chr6:52049690 T
T
 C
C
 1 a0004c0064t0003g0053
a0004c0064t0003g0053
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.2279+467A>G
c.2279+467A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52049690
chr6:52049767 G
G
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2279+390C>T
c.2279+390C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52049767
chr6:52050100 T
T
 C
C
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2279+57A>G
c.2279+57A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52050100
chr6:52050144 A
A
 C
C
 1 a0001c0022t0001g0129
a0001c0022t0001g0129
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.2279+13T>G
c.2279+13T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 22/66 chr6 52050144
chr6:52050616 A
A
 G
G
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 7 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(4): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.2141-321T>C
c.2141-321T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52050616
chr6:52050649 C
C
 T
T
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.2141-354G>A
c.2141-354G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52050649
chr6:52050671 T
T
 A
A
 1 a0034c0085t0004g0096
a0034c0085t0004g0096
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.2141-376A>T
c.2141-376A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52050671
chr6:52050741 G
G
 A
A
 37 a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
others(34): Show 
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0006c0011t0005g0063
a0006c0078t0005g0104
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
 37 HG00423.hp1
HG00738.hp2
HG01081.hp2
others(34): Show 
HG00423.hp1
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02970.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.2141-446C>T
c.2141-446C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52050741
chr6:52050792 T
T
 G
G
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2141-497A>C
c.2141-497A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52050792
chr6:52050932 T
T
 A
A
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.2141-637A>T
c.2141-637A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52050932
chr6:52050983 G
G
 C
C
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.2141-688C>G
c.2141-688C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52050983
chr6:52051261 A
A
 G
G
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2141-966T>C
c.2141-966T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52051261
chr6:52051397 T
T
 C
C
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.2141-1102A>G
c.2141-1102A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52051397
chr6:52051807 T
T
 C
C
 8 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
others(5): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0045c0084t0006g0087
a0047c0051t0004g0056
 8 HG01255.hp1
HG02486.hp1
HG02922.hp2
others(5): Show 
HG01255.hp1
HG02486.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.2140+1269A>G
c.2140+1269A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52051807
chr6:52051812 GTCACCAA
others(35): Show 
GTCACCAAAGACCCCCAGCCAGTTGTCTTGGGCACCAAAAAAT
 G
G
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2140+1222_2140+126
others(46): Show 
c.2140+1222_2140+1263delATTTTTTGGTGCCCAAGACAACTGGC
TGGGGGTCTTTGGTGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52051812
chr6:52052018 T
T
 C
C
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2140+1058A>G
c.2140+1058A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052018
chr6:52052301 C
C
 T
T
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2140+775G>A
c.2140+775G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052301
chr6:52052359 G
G
 A
A
 1 a0006c0076t0005g0088
a0006c0076t0005g0088
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.2140+717C>T
c.2140+717C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052359
chr6:52052425 G
G
 A
A
 14 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
others(11): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0045c0084t0006g0087
a0047c0051t0004g0056
 14 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(11): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02486.hp1
HG02717.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.2140+651C>T
c.2140+651C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052425
chr6:52052522 G
G
 C
C
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2140+554C>G
c.2140+554C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052522
chr6:52052523 C
C
 T
T
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2140+553G>A
c.2140+553G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052523
chr6:52052709 C
C
 A
A
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2140+367G>T
c.2140+367G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052709
chr6:52052752 G
G
 A
A
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2140+324C>T
c.2140+324C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052752
chr6:52052774 T
T
 G
G
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.2140+302A>C
c.2140+302A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 21/66 chr6 52052774
chr6:52053554 T
T
 C
C
 5 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(2): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
 5 HG00741.hp1
HG02717.hp1
HG02897.hp2
others(2): Show 
HG00741.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.1965-303A>G
c.1965-303A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 20/66 chr6 52053554
chr6:52053595 T
T
 G
G
 15 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
others(12): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0083t0001g0125
a0002c0065t0007g0068
a0002c0079t0007g0089
a0006c0011t0005g0134
a0006c0076t0005g0088
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0045c0084t0006g0087
a0047c0051t0004g0056
 15 HG00741.hp1
HG01175.hp1
HG01255.hp1
others(12): Show 
HG00741.hp1
HG01175.hp1
HG01255.hp1
HG02486.hp1
HG02717.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG06807.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1965-344A>C
c.1965-344A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 20/66 chr6 52053595
chr6:52053699 C
C
 G
G
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1964+339G>C
c.1964+339G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 20/66 chr6 52053699
chr6:52054235 G
G
 T
T
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1837-70C>A
c.1837-70C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52054235
chr6:52054435 G
G
 A
A
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1837-270C>T
c.1837-270C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52054435
chr6:52054455 G
G
 A
A
 13 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(10): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
 13 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(10): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG03540.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.1837-290C>T
c.1837-290C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52054455
chr6:52054625 G
G
 A
A
 1 a0002c0004t0010g0101
a0002c0004t0010g0101
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1837-460C>T
c.1837-460C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52054625
chr6:52054650 T
T
 A
A
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1837-485A>T
c.1837-485A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52054650
chr6:52054833 G
G
 A
A
 9 a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
others(6): Show 
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0015t0001g0039
a0004c0006t0003g0040
a0004c0014t0004g0024
a0004c0014t0004g0033
a0015c0025t0001g0031
a0020c0050t0001g0023
a0021c0045t0001g0036
 9 HG00423.hp2
HG01081.hp1
HG01433.hp2
others(6): Show 
HG00423.hp2
HG01081.hp1
HG01433.hp2
HG02015.hp1
HG02683.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1837-668C>T
c.1837-668C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52054833
chr6:52055102 T
T
 C
C
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
 16 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(13): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG03540.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.1836+485A>G
c.1836+485A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52055102
chr6:52055129 C
C
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1836+458G>A
c.1836+458G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52055129
chr6:52055385 C
C
 T
T
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.1836+202G>A
c.1836+202G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 19/66 chr6 52055385
chr6:52055761 G
G
 C
C
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.1694-32C>G
c.1694-32C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 18/66 chr6 52055761
chr6:52055969 T
T
 C
C
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1694-240A>G
c.1694-240A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 18/66 chr6 52055969
chr6:52056090 A
A
 G
G
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
 16 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(13): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG03540.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.1694-361T>C
c.1694-361T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 18/66 chr6 52056090
chr6:52056333 T
T
 C
C
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.1693+365A>G
c.1693+365A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 18/66 chr6 52056333
chr6:52056514 G
G
 A
A
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1693+184C>T
c.1693+184C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 18/66 chr6 52056514
chr6:52056816 A
A
 G
G
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.1603-28T>C
c.1603-28T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 17/66 chr6 52056816
chr6:52057112 C
C
 G
G
 2 a0001c0061t0001g0064
a0043c0063t0005g0066
a0001c0061t0001g0064
a0043c0063t0005g0066
 2 HG03453.hp1
NA20300.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1513-133G>C
c.1513-133G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057112
chr6:52057277 C
C
 T
T
 1 a0017c0089t0002g0116
a0017c0089t0002g0116
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1513-298G>A
c.1513-298G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057277
chr6:52057342 C
C
 A
A
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1513-363G>T
c.1513-363G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057342
chr6:52057424 CT
CT
 C
C
 49 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(46): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 49 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(46): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1513-446delA
c.1513-446delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057424
chr6:52057437 A
A
 G
G
 1 a0010c0028t0001g0009
a0010c0028t0001g0009
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1513-458T>C
c.1513-458T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057437
chr6:52057629 A
A
 G
G
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1513-650T>C
c.1513-650T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057629
chr6:52057774 CAT
CAT
 C
C
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.1512+547_1512+548d
others(4): Show 
c.1512+547_1512+548delAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057774
chr6:52057948 C
C
 T
T
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1512+375G>A
c.1512+375G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52057948
chr6:52058232 C
C
 G
G
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1512+91G>C
c.1512+91G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 16/66 chr6 52058232
chr6:52058606 G
G
 A
A
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 splice_region_variant&intron_variant LOW c.1234-5C>T
c.1234-5C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058606
chr6:52058611 A
A
 T
T
 16 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(13): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
 16 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(13): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG03540.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.1234-10T>A
c.1234-10T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058611
chr6:52058640 G
G
 C
C
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.1234-39C>G
c.1234-39C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058640
chr6:52058771 C
C
 CTCTA
CTCTA
 30 a0001c0002t0001g0083
a0001c0002t0001g0113
a0001c0002t0001g0117
others(27): Show 
a0001c0002t0001g0083
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0020t0003g0084
a0002c0079t0007g0089
a0002c0080t0002g0121
a0006c0011t0005g0134
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0010c0026t0001g0013
a0010c0028t0001g0009
a0012c0029t0002g0010
a0014c0024t0001g0004
a0016c0090t0001g0120
a0017c0089t0002g0116
a0025c0072t0001g0095
a0026c0073t0005g0094
a0029c0070t0008g0090
a0037c0060t0005g0022
a0040c0081t0001g0124
a0041c0088t0006g0114
a0046c0067t0003g0112
a0047c0051t0004g0056
 30 HG00738.hp2
HG01074.hp1
HG01081.hp2
others(27): Show 
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp2
HG03669.hp1
HG06807.hp2
NA18971.hp1
NA18975.hp1
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.1234-174_1234-171d
others(6): Show 
c.1234-174_1234-171dupTAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058771
chr6:52058771 C
C
 CTCTATCT
others(1): Show 
CTCTATCTA
 24 a0001c0001t0001g0060
a0001c0002t0001g0107
a0001c0002t0009g0099
others(21): Show 
a0001c0001t0001g0060
a0001c0002t0001g0107
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0019t0001g0118
a0001c0032t0001g0075
a0001c0061t0001g0064
a0002c0004t0003g0126
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0020t0008g0110
a0002c0077t0002g0102
a0006c0078t0005g0104
a0010c0030t0001g0007
a0012c0027t0002g0005
a0013c0095t0014g0122
a0024c0068t0001g0091
a0027c0069t0018g0092
a0028c0071t0012g0093
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0044c0075t0001g0119
a0045c0084t0006g0087
 24 HG00423.hp1
HG00741.hp1
HG01106.hp2
others(21): Show 
HG00423.hp1
HG00741.hp1
HG01106.hp2
HG01255.hp2
HG01952.hp2
HG02451.hp2
HG02683.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18964.hp1
NA18988.hp2
NA19007.hp2
NA19054.hp1
 intron_variant MODIFIER c.1234-178_1234-171d
others(10): Show 
c.1234-178_1234-171dupTAGATAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058771
chr6:52058771 C
C
 CTCTATCT
others(5): Show 
CTCTATCTATCTA
 2 a0001c0009t0001g0106
a0043c0063t0005g0066
a0001c0009t0001g0106
a0043c0063t0005g0066
 2 HG01261.hp1
NA20300.hp1
HG01261.hp1
NA20300.hp1
 intron_variant MODIFIER c.1234-182_1234-171d
others(14): Show 
c.1234-182_1234-171dupTAGATAGATAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058771
chr6:52058771 CTCTA
CTCTA
 C
C
 47 a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0083t0001g0125
others(44): Show 
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0083t0001g0125
a0002c0005t0002g0021
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0048c0023t0017g0081
 47 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(44): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1234-174_1234-171d
others(6): Show 
c.1234-174_1234-171delTAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058771
chr6:52058771 CTCTATCT
others(5): Show 
CTCTATCTATCTA
 C
C
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1234-182_1234-171d
others(14): Show 
c.1234-182_1234-171delTAGATAGATAGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058771
chr6:52058934 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1234-333C>T
c.1234-333C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52058934
chr6:52059093 A
A
 G
G
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1234-492T>C
c.1234-492T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059093
chr6:52059259 C
C
 CT
CT
 41 a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0093t0001g0127
others(38): Show 
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0021
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0015t0001g0039
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0015c0025t0001g0031
a0021c0045t0001g0036
a0022c0042t0002g0051
a0032c0058t0001g0070
 41 HG00423.hp2
HG00738.hp1
HG01071.hp1
others(38): Show 
HG00423.hp2
HG00738.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02486.hp2
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp2
NA19003.hp1
NA19003.hp2
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1234-659dupA
c.1234-659dupA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059259
chr6:52059259 C
C
 CTT
CTT
 6 a0004c0008t0004g0045
a0004c0046t0002g0050
a0005c0037t0001g0038
others(3): Show 
a0004c0008t0004g0045
a0004c0046t0002g0050
a0005c0037t0001g0038
a0007c0003t0001g0011
a0014c0024t0001g0004
a0019c0049t0001g0035
 6 HG01106.hp1
HG02698.hp1
HG03669.hp1
others(3): Show 
HG01106.hp1
HG02698.hp1
HG03669.hp1
NA18989.hp1
NA19001.hp2
NA19005.hp1
 intron_variant MODIFIER c.1234-660_1234-659d
others(4): Show 
c.1234-660_1234-659dupAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059259
chr6:52059259 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1233+658_1234-659d
others(13): Show 
c.1233+658_1234-659dupAAAAAAAAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059259
chr6:52059259 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 2 a0002c0079t0007g0089
a0006c0076t0005g0088
a0002c0079t0007g0089
a0006c0076t0005g0088
 2 HG01255.hp1
HG02486.hp1
HG01255.hp1
HG02486.hp1
 intron_variant MODIFIER c.1233+657_1234-659d
others(14): Show 
c.1233+657_1234-659dupAAAAAAAAAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059259
chr6:52059259 CT
CT
 C
C
 12 a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
others(9): Show 
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0080t0002g0121
a0003c0007t0001g0037
a0003c0015t0001g0041
a0006c0011t0005g0134
a0023c0044t0001g0044
a0047c0051t0004g0056
 12 HG00741.hp2
HG01952.hp1
HG02451.hp1
others(9): Show 
HG00741.hp2
HG01952.hp1
HG02451.hp1
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA19001.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1234-659delA
c.1234-659delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059259
chr6:52059259 CTT
CTT
 C
C
 40 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(37): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 40 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(37): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.1234-660_1234-659d
others(4): Show 
c.1234-660_1234-659delAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059259
chr6:52059259 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 2 a0001c0061t0001g0064
a0043c0063t0005g0066
a0001c0061t0001g0064
a0043c0063t0005g0066
 2 HG03453.hp1
NA20300.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1233+656_1234-659d
others(15): Show 
c.1233+656_1234-659delAAAAAAAAAAAAA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059259
chr6:52059265 T
T
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.1233+663A>G
c.1233+663A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059265
chr6:52059339 C
C
 T
T
 1 a0004c0043t0015g0057
a0004c0043t0015g0057
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.1233+589G>A
c.1233+589G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059339
chr6:52059765 C
C
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.1233+163G>A
c.1233+163G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059765
chr6:52059888 C
C
 G
G
 2 a0034c0085t0004g0096
a0035c0086t0001g0109
a0034c0085t0004g0096
a0035c0086t0001g0109
 2 HG00423.hp1
HG01952.hp2
HG00423.hp1
HG01952.hp2
 intron_variant MODIFIER c.1233+40G>C
c.1233+40G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 15/66 chr6 52059888
chr6:52060141 AAAG
AAAG
 A
A
 4 a0001c0001t0001g0062
a0002c0005t0002g0021
a0006c0011t0005g0063
others(1): Show 
a0001c0001t0001g0062
a0002c0005t0002g0021
a0006c0011t0005g0063
a0018c0052t0006g0086
 4 HG02809.hp2
HG03139.hp1
HG03225.hp1
others(1): Show 
HG02809.hp2
HG03139.hp1
HG03225.hp1
HG03486.hp2
 intron_variant MODIFIER c.1119-102_1119-100d
others(5): Show 
c.1119-102_1119-100delCTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060141
chr6:52060150 C
C
 T
T
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1119-108G>A
c.1119-108G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060150
chr6:52060232 A
A
 G
G
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.1119-190T>C
c.1119-190T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060232
chr6:52060465 G
G
 A
A
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.1119-423C>T
c.1119-423C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060465
chr6:52060544 C
C
 G
G
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1119-502G>C
c.1119-502G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060544
chr6:52060777 T
T
 A
A
 1 a0035c0086t0001g0109
a0035c0086t0001g0109
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1119-735A>T
c.1119-735A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060777
chr6:52060823 A
A
 G
G
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.1119-781T>C
c.1119-781T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060823
chr6:52060996 G
G
 A
A
 4 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
others(1): Show 
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0002c0091t0007g0133
 4 HG03540.hp2
HG04184.hp1
HG04204.hp2
others(1): Show 
HG03540.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.1119-954C>T
c.1119-954C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52060996
chr6:52061031 C
C
 T
T
 2 a0001c0001t0001g0061
a0042c0035t0006g0059
a0001c0001t0001g0061
a0042c0035t0006g0059
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.1119-989G>A
c.1119-989G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061031
chr6:52061079 A
A
 G
G
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1119-1037T>C
c.1119-1037T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061079
chr6:52061159 A
A
 G
G
 1 a0001c0010t0001g0078
a0001c0010t0001g0078
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1119-1117T>C
c.1119-1117T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061159
chr6:52061312 T
T
 G
G
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1118+1207A>C
c.1118+1207A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061312
chr6:52061316 G
G
 A
A
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1118+1203C>T
c.1118+1203C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061316
chr6:52061410 C
C
 T
T
 2 a0001c0061t0001g0064
a0043c0063t0005g0066
a0001c0061t0001g0064
a0043c0063t0005g0066
 2 HG03453.hp1
NA20300.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1118+1109G>A
c.1118+1109G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061410
chr6:52061421 A
A
 C
C
 2 a0001c0061t0001g0064
a0043c0063t0005g0066
a0001c0061t0001g0064
a0043c0063t0005g0066
 2 HG03453.hp1
NA20300.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1118+1098T>G
c.1118+1098T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061421
chr6:52061461 A
A
 C
C
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1118+1058T>G
c.1118+1058T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061461
chr6:52061475 G
G
 A
A
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.1118+1044C>T
c.1118+1044C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061475
chr6:52061522 C
C
 T
T
 8 a0002c0065t0007g0068
a0008c0018t0020g0074
a0008c0053t0016g0069
others(5): Show 
a0002c0065t0007g0068
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
 8 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(5): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
 intron_variant MODIFIER c.1118+997G>A
c.1118+997G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061522
chr6:52061749 T
T
 C
C
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1118+770A>G
c.1118+770A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52061749
chr6:52062064 G
G
 C
C
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.1118+455C>G
c.1118+455C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52062064
chr6:52062271 T
T
 G
G
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0006c0011t0005g0134
a0047c0051t0004g0056
 7 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(4): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA19240.hp1
 intron_variant MODIFIER c.1118+248A>C
c.1118+248A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 14/66 chr6 52062271
chr6:52062762 C
C
 T
T
 1 a0015c0025t0001g0031
a0015c0025t0001g0031
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.977-102G>A
c.977-102G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52062762
chr6:52062868 T
T
 C
C
 13 a0001c0001t0001g0058
a0001c0001t0001g0061
a0007c0003t0001g0006
others(10): Show 
a0001c0001t0001g0058
a0001c0001t0001g0061
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
a0042c0035t0006g0059
 13 HG02257.hp2
HG02451.hp1
HG02970.hp1
others(10): Show 
HG02257.hp2
HG02451.hp1
HG02970.hp1
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.977-208A>G
c.977-208A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52062868
chr6:52062879 CT
CT
 C
C
 24 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
others(21): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
a0006c0011t0005g0134
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
a0047c0051t0004g0056
 24 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(21): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp2
HG03453.hp1
HG03540.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.977-220delA
c.977-220delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52062879
chr6:52062885 T
T
 C
C
 40 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(37): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 40 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(37): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.977-225A>G
c.977-225A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52062885
chr6:52063218 A
A
 C
C
 45 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(42): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 45 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(42): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.977-558T>G
c.977-558T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52063218
chr6:52063317 C
C
 T
T
 3 a0003c0012t0001g0032
a0004c0014t0004g0033
a0015c0025t0001g0031
a0003c0012t0001g0032
a0004c0014t0004g0033
a0015c0025t0001g0031
 3 HG00423.hp2
HG02015.hp1
NA18747.hp1
HG00423.hp2
HG02015.hp1
NA18747.hp1
 intron_variant MODIFIER c.977-657G>A
c.977-657G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52063317
chr6:52063426 T
T
 C
C
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.977-766A>G
c.977-766A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52063426
chr6:52063560 A
A
 G
G
 2 a0001c0083t0001g0125
a0002c0065t0007g0068
a0001c0083t0001g0125
a0002c0065t0007g0068
 2 HG03453.hp2
NA20129.hp1
HG03453.hp2
NA20129.hp1
 intron_variant MODIFIER c.977-900T>C
c.977-900T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52063560
chr6:52063694 A
A
 C
C
 2 a0003c0012t0001g0025
a0004c0014t0004g0024
a0003c0012t0001g0025
a0004c0014t0004g0024
 2 HG01081.hp1
HG04204.hp1
HG01081.hp1
HG04204.hp1
 intron_variant MODIFIER c.977-1034T>G
c.977-1034T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52063694
chr6:52063863 T
T
 C
C
 1 a0019c0049t0001g0035
a0019c0049t0001g0035
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.976+1092A>G
c.976+1092A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52063863
chr6:52064057 A
A
 T
T
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.976+898T>A
c.976+898T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064057
chr6:52064089 T
T
 G
G
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.976+866A>C
c.976+866A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064089
chr6:52064190 G
G
 A
A
 1 a0038c0062t0002g0065
a0038c0062t0002g0065
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.976+765C>T
c.976+765C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064190
chr6:52064203 T
T
 G
G
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.976+752A>C
c.976+752A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064203
chr6:52064678 T
T
 G
G
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.976+277A>C
c.976+277A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064678
chr6:52064864 G
G
 GAAAGAAT
others(311): Show 
GAAAGAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAA
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.976+90_976+91insTT
others(316): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC
ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG
TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA
TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACCGCGCCCGGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52064864 G
G
 GAAAGAAT
others(312): Show 
GAAAGAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAAA
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.976+90_976+91insTT
others(317): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT
CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCT
CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC
CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT
GTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG
ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT
TACAGGCGTGAGCCACCGCGCCCGGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52064864 G
G
 GAAAGAAT
others(313): Show 
GAAAGAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAAAA
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.976+90_976+91insTT
others(318): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC
TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGC
TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT
CCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT
TGTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC
GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA
TTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52064864 G
G
 GAAAGAAT
others(311): Show 
GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAA
 1 a0002c0077t0002g0102
a0002c0077t0002g0102
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.976+90_976+91insTT
others(316): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC
ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG
TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGA
TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52064864 G
G
 GAAAGAAT
others(311): Show 
GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAA
 1 a0017c0089t0002g0116
a0017c0089t0002g0116
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.976+90_976+91insTT
others(316): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC
ACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG
TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA
TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52064864 G
G
 GAAAGAAT
others(311): Show 
GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCAAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAA
 3 a0001c0001t0001g0060
a0001c0082t0001g0105
a0002c0020t0008g0110
a0001c0001t0001g0060
a0001c0082t0001g0105
a0002c0020t0008g0110
 3 HG02965.hp1
HG02970.hp2
HG03471.hp1
HG02965.hp1
HG02970.hp2
HG03471.hp1
 intron_variant MODIFIER c.976+90_976+91insTT
others(316): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTTGGCTC
ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG
TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA
TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52064864 G
G
 GAAAGAAT
others(311): Show 
GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAA
 28 a0001c0002t0001g0083
a0001c0002t0001g0113
a0001c0002t0001g0117
others(25): Show 
a0001c0002t0001g0083
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0080t0002g0121
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0026c0073t0005g0094
a0027c0069t0018g0092
a0029c0070t0008g0090
a0035c0086t0001g0109
a0036c0074t0003g0108
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 28 HG00738.hp2
HG01074.hp1
HG01081.hp2
others(25): Show 
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03239.hp1
HG03704.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
 intron_variant MODIFIER c.976+90_976+91insTT
others(316): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC
GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTC
ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG
TATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA
TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52064864 G
G
 GAAAGAAT
others(312): Show 
GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT
GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC
GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA
GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT
GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAAA
 7 a0001c0002t0001g0107
a0002c0004t0004g0115
a0024c0068t0001g0091
others(4): Show 
a0001c0002t0001g0107
a0002c0004t0004g0115
a0024c0068t0001g0091
a0025c0072t0001g0095
a0028c0071t0012g0093
a0034c0085t0004g0096
a0039c0066t0003g0098
 7 HG00423.hp1
HG00741.hp1
HG03225.hp2
others(4): Show 
HG00423.hp1
HG00741.hp1
HG03225.hp2
HG06807.hp1
HG06807.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.976+90_976+91insTT
others(317): Show 
c.976+90_976+91insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT
CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCT
CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC
CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT
GTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG
ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT
TACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 13/66 chr6 52064864
chr6:52065133 T
T
 TTATATAT
others(1): Show 
TTATATATA
 2 a0015c0025t0001g0031
a0019c0049t0001g0035
a0015c0025t0001g0031
a0019c0049t0001g0035
 2 HG02698.hp1
NA18747.hp1
HG02698.hp1
NA18747.hp1
 intron_variant MODIFIER c.881-91_881-84dupTA
others(6): Show 
c.881-91_881-84dupTATATATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065133
chr6:52065133 T
T
 TTATATAT
others(7): Show 
TTATATATATATATA
 1 a0004c0014t0004g0024
a0004c0014t0004g0024
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.881-97_881-84dupTA
others(12): Show 
c.881-97_881-84dupTATATATATATATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065133
chr6:52065133 T
T
 TTATATAT
others(15): Show 
TTATATATATATATATATATATA
 1 a0003c0012t0001g0025
a0003c0012t0001g0025
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.881-105_881-84dupT
others(21): Show 
c.881-105_881-84dupTATATATATATATATATATATA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065133
chr6:52065133 TTA
TTA
 T
T
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0006c0011t0005g0134
a0008c0018t0020g0074
a0033c0059t0008g0001
a0047c0051t0004g0056
 7 HG00741.hp2
HG02922.hp2
HG02976.hp1
others(4): Show 
HG00741.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp2
HG03471.hp2
NA19240.hp1
 intron_variant MODIFIER c.881-85_881-84delTA
c.881-85_881-84delTA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065133
chr6:52065156 T
T
 G
G
 3 a0001c0001t0001g0060
a0001c0002t0001g0117
a0044c0075t0001g0119
a0001c0001t0001g0060
a0001c0002t0001g0117
a0044c0075t0001g0119
 3 HG00738.hp2
HG02965.hp1
NA19007.hp2
HG00738.hp2
HG02965.hp1
NA19007.hp2
 intron_variant MODIFIER c.881-106A>C
c.881-106A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065156
chr6:52065156 T
T
 TAG
TAG
 3 a0003c0013t0001g0052
a0006c0011t0005g0063
a0009c0056t0001g0073
a0003c0013t0001g0052
a0006c0011t0005g0063
a0009c0056t0001g0073
 3 HG02015.hp2
HG02809.hp2
HG03486.hp1
HG02015.hp2
HG02809.hp2
HG03486.hp1
 intron_variant MODIFIER c.881-107_881-106ins
others(2): Show 
c.881-107_881-106insCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065156
chr6:52065158 T
T
 G
G
 17 a0001c0001t0001g0060
a0001c0002t0001g0113
a0001c0002t0001g0117
others(14): Show 
a0001c0001t0001g0060
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0083t0001g0125
a0002c0004t0004g0115
a0002c0091t0007g0133
a0003c0013t0001g0052
a0006c0011t0005g0063
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0017c0089t0002g0116
a0031c0057t0013g0067
a0038c0062t0002g0065
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 17 HG00738.hp2
HG01074.hp1
HG01243.hp1
others(14): Show 
HG00738.hp2
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG02015.hp2
HG02040.hp2
HG02280.hp1
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03486.hp1
HG03540.hp2
NA19007.hp2
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.881-108A>C
c.881-108A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065158
chr6:52065160 T
T
 G
G
 32 a0001c0001t0001g0060
a0001c0002t0001g0107
a0001c0002t0001g0113
others(29): Show 
a0001c0001t0001g0060
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0010t0001g0078
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0004g0115
a0002c0091t0007g0133
a0003c0013t0001g0052
a0004c0043t0015g0057
a0006c0011t0005g0063
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0080
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0025c0072t0001g0095
a0026c0073t0005g0094
a0031c0057t0013g0067
a0034c0085t0004g0096
a0038c0062t0002g0065
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
a0048c0023t0017g0081
 32 HG00423.hp1
HG00738.hp2
HG01071.hp2
others(29): Show 
HG00423.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01243.hp1
HG01243.hp2
HG02015.hp2
HG02040.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.881-110A>C
c.881-110A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065160
chr6:52065160 T
T
 TAG
TAG
 4 a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0046t0002g0050
others(1): Show 
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0046t0002g0050
a0030c0055t0002g0072
 4 HG01496.hp2
HG02818.hp1
NA18964.hp2
others(1): Show 
HG01496.hp2
HG02818.hp1
NA18964.hp2
NA19005.hp1
 intron_variant MODIFIER c.881-111_881-110ins
others(2): Show 
c.881-111_881-110insCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065160
chr6:52065160 T
T
 TAGAG
TAGAG
 2 a0022c0042t0002g0051
a0032c0058t0001g0070
a0022c0042t0002g0051
a0032c0058t0001g0070
 2 HG03239.hp2
HG03516.hp1
HG03239.hp2
HG03516.hp1
 intron_variant MODIFIER c.881-111_881-110ins
others(4): Show 
c.881-111_881-110insCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065160
chr6:52065160 T
T
 TAGAGAGA
others(3): Show 
TAGAGAGAGAG
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.881-111_881-110ins
others(10): Show 
c.881-111_881-110insCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065160
chr6:52065160 T
T
 TAGAGAGA
others(5): Show 
TAGAGAGAGAGAG
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.881-111_881-110ins
others(12): Show 
c.881-111_881-110insCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065160
chr6:52065160 T
T
 TAGAGAGA
others(9): Show 
TAGAGAGAGAGAGAGAG
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.881-111_881-110ins
others(16): Show 
c.881-111_881-110insCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065160
chr6:52065162 T
T
 G
G
 54 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(51): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0091t0007g0133
a0003c0013t0001g0052
a0003c0036t0001g0042
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0080
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0022c0042t0002g0051
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 54 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(51): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp2
HG02015.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04204.hp2
HG06807.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18988.hp1
NA19005.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.881-112A>C
c.881-112A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065162
chr6:52065162 T
T
 TAG
TAG
 4 a0001c0001t0001g0062
a0003c0007t0001g0043
a0004c0064t0003g0053
others(1): Show 
a0001c0001t0001g0062
a0003c0007t0001g0043
a0004c0064t0003g0053
a0023c0044t0001g0044
 4 HG01175.hp2
HG01952.hp1
HG03225.hp1
others(1): Show 
HG01175.hp2
HG01952.hp1
HG03225.hp1
HG03669.hp2
 intron_variant MODIFIER c.881-113_881-112ins
others(2): Show 
c.881-113_881-112insCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065162
chr6:52065162 T
T
 TAGAGAG
TAGAGAG
 2 a0001c0061t0001g0064
a0004c0006t0002g0055
a0001c0061t0001g0064
a0004c0006t0002g0055
 2 HG03453.hp1
HG03516.hp2
HG03453.hp1
HG03516.hp2
 intron_variant MODIFIER c.881-113_881-112ins
others(6): Show 
c.881-113_881-112insCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065162
chr6:52065164 T
T
 G
G
 66 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(63): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0080
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0022c0042t0002g0051
a0023c0044t0001g0044
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 66 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(63): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG04204.hp2
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18988.hp1
NA18989.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.881-114A>C
c.881-114A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065164
chr6:52065164 T
T
 TAG
TAG
 2 a0003c0015t0001g0041
a0011c0017t0005g0071
a0003c0015t0001g0041
a0011c0017t0005g0071
 2 HG02280.hp2
NA20300.hp2
HG02280.hp2
NA20300.hp2
 intron_variant MODIFIER c.881-115_881-114ins
others(2): Show 
c.881-115_881-114insCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065164
chr6:52065164 T
T
 TAGAGAGA
others(3): Show 
TAGAGAGAGAG
 1 a0043c0063t0005g0066
a0043c0063t0005g0066
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.881-115_881-114ins
others(10): Show 
c.881-115_881-114insCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065164
chr6:52065166 T
T
 G
G
 80 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(77): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0080t0002g0121
a0002c0091t0007g0133
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0036t0001g0042
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 80 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(77): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.881-116A>C
c.881-116A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065166
chr6:52065166 T
T
 TAGAGAG
TAGAGAG
 2 a0003c0041t0001g0046
a0004c0008t0004g0045
a0003c0041t0001g0046
a0004c0008t0004g0045
 2 NA19001.hp2
NA20752.hp2
NA19001.hp2
NA20752.hp2
 intron_variant MODIFIER c.881-117_881-116ins
others(6): Show 
c.881-117_881-116insCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065166
chr6:52065166 T
T
 TAGAGAGA
others(1): Show 
TAGAGAGAG
 2 a0003c0016t0001g0028
a0037c0060t0005g0022
a0003c0016t0001g0028
a0037c0060t0005g0022
 2 HG02922.hp1
HG03704.hp2
HG02922.hp1
HG03704.hp2
 intron_variant MODIFIER c.881-117_881-116ins
others(8): Show 
c.881-117_881-116insCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065166
chr6:52065166 T
T
 TAGAGAGA
others(7): Show 
TAGAGAGAGAGAGAG
 1 a0001c0093t0001g0127
a0001c0093t0001g0127
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.881-117_881-116ins
others(14): Show 
c.881-117_881-116insCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065166
chr6:52065166 TATAGAG
TATAGAG
 T
T
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.881-122_881-117del
others(6): Show 
c.881-122_881-117delCTCTAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065166
chr6:52065168 T
T
 G
G
 87 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(84): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0080t0002g0121
a0002c0091t0007g0133
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0041
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0004c0006t0002g0055
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0071
a0011c0017t0005g0080
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 87 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(84): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02040.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.881-118A>C
c.881-118A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TAGAGAGA
others(1): Show 
TAGAGAGAG
 4 a0003c0007t0001g0049
a0003c0016t0001g0027
a0003c0048t0001g0047
others(1): Show 
a0003c0007t0001g0049
a0003c0016t0001g0027
a0003c0048t0001g0047
a0004c0006t0002g0048
 4 HG01261.hp2
HG02055.hp1
HG02486.hp2
others(1): Show 
HG01261.hp2
HG02055.hp1
HG02486.hp2
HG02698.hp2
 intron_variant MODIFIER c.881-126_881-119dup
others(8): Show 
c.881-126_881-119dupCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TAGAGAGA
others(3): Show 
TAGAGAGAGAG
 3 a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0034t0001g0016
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0034t0001g0016
 3 HG02040.hp1
HG02896.hp2
HG02897.hp1
HG02040.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.881-128_881-119dup
others(10): Show 
c.881-128_881-119dupCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TAGAGAGA
others(7): Show 
TAGAGAGAGAGAGAG
 2 a0010c0028t0001g0009
a0012c0029t0002g0010
a0010c0028t0001g0009
a0012c0029t0002g0010
 2 NA20129.hp2
NA20752.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.881-132_881-119dup
others(14): Show 
c.881-132_881-119dupCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TAGAGAGA
others(9): Show 
TAGAGAGAGAGAGAGAG
 1 a0014c0024t0001g0004
a0014c0024t0001g0004
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.881-134_881-119dup
others(16): Show 
c.881-134_881-119dupCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TAGAGAGA
others(11): Show 
TAGAGAGAGAGAGAGAGAG
 1 a0010c0026t0001g0013
a0010c0026t0001g0013
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.881-136_881-119dup
others(18): Show 
c.881-136_881-119dupCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TAGAGAGA
others(15): Show 
TAGAGAGAGAGAGAGAGAGAGAG
 1 a0002c0005t0002g0018
a0002c0005t0002g0018
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.881-140_881-119dup
others(22): Show 
c.881-140_881-119dupCTCTCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATAGAG
TATAGAG
 3 a0003c0015t0001g0039
a0004c0006t0003g0040
a0005c0037t0001g0038
a0003c0015t0001g0039
a0004c0006t0003g0040
a0005c0037t0001g0038
 3 HG01106.hp1
HG04228.hp1
homoSapiens_chm13v2.hp1
HG01106.hp1
HG04228.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(6): Show 
c.881-119_881-118insCTCTAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATAGAGA
others(5): Show 
TATAGAGAGAGAG
 2 a0012c0027t0002g0005
a0018c0052t0006g0086
a0012c0027t0002g0005
a0018c0052t0006g0086
 2 HG03139.hp1
NA18988.hp2
HG03139.hp1
NA18988.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(12): Show 
c.881-119_881-118insCTCTCTCTCTAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATAGAGA
others(9): Show 
TATAGAGAGAGAGAGAG
 2 a0001c0094t0001g0131
a0007c0003t0001g0011
a0001c0094t0001g0131
a0007c0003t0001g0011
 2 HG02809.hp1
NA18989.hp1
HG02809.hp1
NA18989.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(16): Show 
c.881-119_881-118insCTCTCTCTCTCTCTAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATAG
TATATAG
 2 a0005c0040t0001g0029
a0021c0045t0001g0036
a0005c0040t0001g0029
a0021c0045t0001g0036
 2 HG01074.hp2
HG01433.hp2
HG01074.hp2
HG01433.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(6): Show 
c.881-119_881-118insCTATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATAGA
others(13): Show 
TATATAGAGAGAGAGAGAGAG
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(20): Show 
c.881-119_881-118insCTCTCTCTCTCTCTCTATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(3): Show 
TATATATAGAG
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(10): Show 
c.881-119_881-118insCTCTATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(9): Show 
TATATATAGAGAGAGAG
 1 a0002c0021t0004g0130
a0002c0021t0004g0130
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(16): Show 
c.881-119_881-118insCTCTCTCTCTATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(13): Show 
TATATATAGAGAGAGAGAGAG
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(20): Show 
c.881-119_881-118insCTCTCTCTCTCTCTATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(25): Show 
TATATATAGAGAGAGAGAGAGAGAGAGAGAGAG
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(32): Show 
c.881-119_881-118insCTCTCTCTCTCTCTCTCTCTCTCTCTATAT
AT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(5): Show 
TATATATATAGAG
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(12): Show 
c.881-119_881-118insCTCTATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(9): Show 
TATATATATAGAGAGAG
 1 a0010c0030t0001g0007
a0010c0030t0001g0007
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(16): Show 
c.881-119_881-118insCTCTCTCTATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(11): Show 
TATATATATAGAGAGAGAG
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(18): Show 
c.881-119_881-118insCTCTCTCTCTATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(17): Show 
TATATATATATATATAGAGAGAGAG
 1 a0007c0003t0001g0008
a0007c0003t0001g0008
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(24): Show 
c.881-119_881-118insCTCTCTCTCTATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(19): Show 
TATATATATATATATATAGAGAGAGAG
 1 a0001c0022t0001g0129
a0001c0022t0001g0129
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.881-119_881-118ins
others(26): Show 
c.881-119_881-118insCTCTCTCTCTATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(17): Show 
TATATATATATATATATATAGAGAG
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(24): Show 
c.881-119_881-118insCTCTCTATATATATATATATATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065168 T
T
 TATATATA
others(27): Show 
TATATATATATATATATATAGAGAGAGAGAGAGAG
 1 a0007c0003t0001g0012
a0007c0003t0001g0012
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.881-119_881-118ins
others(34): Show 
c.881-119_881-118insCTCTCTCTCTCTCTCTATATATATATATAT
ATAT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065168
chr6:52065170 G
G
 T
T
 4 a0003c0012t0001g0025
a0004c0014t0004g0024
a0005c0039t0001g0030
others(1): Show 
a0003c0012t0001g0025
a0004c0014t0004g0024
a0005c0039t0001g0030
a0015c0025t0001g0031
 4 HG01081.hp1
HG02818.hp2
HG04204.hp1
others(1): Show 
HG01081.hp1
HG02818.hp2
HG04204.hp1
NA18747.hp1
 intron_variant MODIFIER c.881-120C>A
c.881-120C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065170
chr6:52065172 G
G
 T
T
 2 a0003c0012t0001g0025
a0004c0014t0004g0024
a0003c0012t0001g0025
a0004c0014t0004g0024
 2 HG01081.hp1
HG04204.hp1
HG01081.hp1
HG04204.hp1
 intron_variant MODIFIER c.881-122C>A
c.881-122C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065172
chr6:52065174 G
G
 T
T
 2 a0003c0012t0001g0025
a0004c0014t0004g0024
a0003c0012t0001g0025
a0004c0014t0004g0024
 2 HG01081.hp1
HG04204.hp1
HG01081.hp1
HG04204.hp1
 intron_variant MODIFIER c.881-124C>A
c.881-124C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065174
chr6:52065184 G
G
 C
C
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.881-134C>G
c.881-134C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAC
GAC
 4 a0001c0002t0001g0117
a0001c0083t0001g0125
a0016c0090t0001g0120
others(1): Show 
a0001c0002t0001g0117
a0001c0083t0001g0125
a0016c0090t0001g0120
a0017c0089t0002g0116
 4 HG00738.hp2
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00738.hp2
HG01081.hp2
HG01243.hp2
NA20129.hp1
 intron_variant MODIFIER c.881-135_881-134ins
others(2): Show 
c.881-135_881-134insGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAGAC
GAGAC
 7 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(4): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0044c0075t0001g0119
 7 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(4): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
NA19007.hp2
 intron_variant MODIFIER c.881-135_881-134ins
others(4): Show 
c.881-135_881-134insGTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAGAGAC
GAGAGAC
 5 a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0082t0001g0105
others(2): Show 
a0001c0009t0001g0103
a0001c0009t0001g0123
a0001c0082t0001g0105
a0006c0078t0005g0104
a0034c0085t0004g0096
 5 HG00423.hp1
HG02451.hp2
HG02622.hp2
others(2): Show 
HG00423.hp1
HG02451.hp2
HG02622.hp2
HG02717.hp2
HG02970.hp2
 intron_variant MODIFIER c.881-135_881-134ins
others(6): Show 
c.881-135_881-134insGTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAGAGAGA
others(1): Show 
GAGAGAGAC
 15 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(12): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0019t0001g0097
a0001c0019t0001g0118
a0002c0004t0003g0085
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0080t0002g0121
a0009c0087t0001g0111
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0046c0067t0003g0112
 15 HG01074.hp1
HG01243.hp1
HG02040.hp2
others(12): Show 
HG01074.hp1
HG01243.hp1
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02683.hp1
HG06807.hp1
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.881-135_881-134ins
others(8): Show 
c.881-135_881-134insGTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAGAGAGA
others(3): Show 
GAGAGAGAGAC
 6 a0001c0001t0001g0060
a0002c0020t0008g0110
a0002c0077t0002g0102
others(3): Show 
a0001c0001t0001g0060
a0002c0020t0008g0110
a0002c0077t0002g0102
a0013c0095t0014g0122
a0035c0086t0001g0109
a0036c0074t0003g0108
 6 HG01106.hp2
HG01255.hp2
HG01952.hp2
others(3): Show 
HG01106.hp2
HG01255.hp2
HG01952.hp2
HG02965.hp1
HG03471.hp1
HG03704.hp1
 intron_variant MODIFIER c.881-135_881-134ins
others(10): Show 
c.881-135_881-134insGTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAGAGAGA
others(5): Show 
GAGAGAGAGAGAC
 2 a0001c0009t0001g0106
a0002c0004t0003g0126
a0001c0009t0001g0106
a0002c0004t0003g0126
 2 HG01261.hp1
HG03239.hp1
HG01261.hp1
HG03239.hp1
 intron_variant MODIFIER c.881-135_881-134ins
others(12): Show 
c.881-135_881-134insGTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAGAGAGA
others(15): Show 
GAGAGAGAGAGAGAGAGAGAGAC
 2 a0002c0065t0007g0068
a0006c0076t0005g0088
a0002c0065t0007g0068
a0006c0076t0005g0088
 2 HG02486.hp1
HG03453.hp2
HG02486.hp1
HG03453.hp2
 intron_variant MODIFIER c.881-135_881-134ins
others(22): Show 
c.881-135_881-134insGTCTCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065184 G
G
 GAGAGAGA
others(19): Show 
GAGAGAGAGAGAGAGAGAGAGAGAGAC
 1 a0045c0084t0006g0087
a0045c0084t0006g0087
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.881-135_881-134ins
others(26): Show 
c.881-135_881-134insGTCTCTCTCTCTCTCTCTCTCTCTCT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065184
chr6:52065186 G
G
 C
C
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.881-136C>G
c.881-136C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065186
chr6:52065188 G
G
 C
C
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.881-138C>G
c.881-138C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065188
chr6:52065195 A
A
 AGAGAGAG
others(10): Show 
AGAGAGAGAGAGAGAGAG
 1 a0007c0003t0001g0006
a0007c0003t0001g0006
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.881-146_881-145ins
others(17): Show 
c.881-146_881-145insCTCTCTCTCTCTCTCTC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065195
chr6:52065298 G
G
 A
A
 73 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
others(70): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 73 HG00423.hp1
HG00738.hp1
HG00738.hp2
others(70): Show 
HG00423.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01952.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18964.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18988.hp1
NA18989.hp2
NA19001.hp1
NA19003.hp2
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.881-248C>T
c.881-248C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065298
chr6:52065299 A
A
 G
G
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.881-249T>C
c.881-249T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065299
chr6:52065499 C
C
 A
A
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0006c0011t0005g0134
a0047c0051t0004g0056
 7 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(4): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA19240.hp1
 intron_variant MODIFIER c.881-449G>T
c.881-449G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065499
chr6:52065639 T
T
 G
G
 40 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(37): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 40 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(37): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.880+337A>C
c.880+337A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 12/66 chr6 52065639
chr6:52066088 T
T
 TA
TA
 78 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(75): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 78 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(75): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.779-12dupT
c.779-12dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52066088
chr6:52066088 TA
TA
 T
T
 5 a0001c0001t0001g0061
a0002c0079t0007g0089
a0012c0027t0002g0005
others(2): Show 
a0001c0001t0001g0061
a0002c0079t0007g0089
a0012c0027t0002g0005
a0031c0057t0013g0067
a0048c0023t0017g0081
 5 HG01255.hp1
HG02451.hp1
HG02622.hp1
others(2): Show 
HG01255.hp1
HG02451.hp1
HG02622.hp1
HG02896.hp1
NA18988.hp2
 intron_variant MODIFIER c.779-12delT
c.779-12delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52066088
chr6:52066272 C
C
 G
G
 5 a0001c0061t0001g0064
a0001c0083t0001g0125
a0037c0060t0005g0022
others(2): Show 
a0001c0061t0001g0064
a0001c0083t0001g0125
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 5 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(2): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.779-195G>C
c.779-195G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52066272
chr6:52066663 C
C
 T
T
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
 12 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(9): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.779-586G>A
c.779-586G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52066663
chr6:52066763 C
C
 T
T
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.779-686G>A
c.779-686G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52066763
chr6:52067358 A
A
 G
G
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.779-1281T>C
c.779-1281T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52067358
chr6:52067615 A
A
 C
C
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.779-1538T>G
c.779-1538T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52067615
chr6:52067898 A
A
 G
G
 1 a0032c0058t0001g0070
a0032c0058t0001g0070
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.778+1559T>C
c.778+1559T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52067898
chr6:52068125 T
T
 C
C
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.778+1332A>G
c.778+1332A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068125
chr6:52068189 G
G
 A
A
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.778+1268C>T
c.778+1268C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068189
chr6:52068238 G
G
 A
A
 2 a0003c0013t0001g0054
a0004c0006t0002g0055
a0003c0013t0001g0054
a0004c0006t0002g0055
 2 HG03516.hp2
NA19240.hp2
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.778+1219C>T
c.778+1219C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068238
chr6:52068284 T
T
 C
C
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.778+1173A>G
c.778+1173A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068284
chr6:52068381 C
C
 T
T
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0006c0011t0005g0134
a0047c0051t0004g0056
 7 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(4): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA19240.hp1
 intron_variant MODIFIER c.778+1076G>A
c.778+1076G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068381
chr6:52068431 C
C
 A
A
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.778+1026G>T
c.778+1026G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068431
chr6:52068474 C
C
 G
G
 4 a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
others(1): Show 
a0001c0061t0001g0064
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 4 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(1): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.778+983G>C
c.778+983G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068474
chr6:52068689 G
G
 A
A
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.778+768C>T
c.778+768C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068689
chr6:52068914 T
T
 C
C
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.778+543A>G
c.778+543A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068914
chr6:52068915 G
G
 A
A
 1 a0002c0021t0004g0128
a0002c0021t0004g0128
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.778+542C>T
c.778+542C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068915
chr6:52068977 C
C
 A
A
 1 a0002c0079t0007g0089
a0002c0079t0007g0089
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.778+480G>T
c.778+480G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52068977
chr6:52069244 T
T
 C
C
 3 a0001c0002t0001g0117
a0016c0090t0001g0120
a0017c0089t0002g0116
a0001c0002t0001g0117
a0016c0090t0001g0120
a0017c0089t0002g0116
 3 HG00738.hp2
HG01081.hp2
HG01243.hp2
HG00738.hp2
HG01081.hp2
HG01243.hp2
 intron_variant MODIFIER c.778+213A>G
c.778+213A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52069244
chr6:52069294 G
G
 A
A
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.778+163C>T
c.778+163C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 11/66 chr6 52069294
chr6:52069690 C
C
 A
A
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.708-163G>T
c.708-163G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 10/66 chr6 52069690
chr6:52069908 A
A
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.708-381T>C
c.708-381T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 10/66 chr6 52069908
chr6:52069935 C
C
 A
A
 13 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(10): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
 13 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(10): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG03540.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.708-408G>T
c.708-408G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 10/66 chr6 52069935
chr6:52069935 C
C
 T
T
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.708-408G>A
c.708-408G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 10/66 chr6 52069935
chr6:52070178 C
C
 T
T
 44 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(41): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 44 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(41): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.707+228G>A
c.707+228G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 10/66 chr6 52070178
chr6:52070180 A
A
 C
C
 56 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
others(53): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0047c0051t0004g0056
 56 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(53): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.707+226T>G
c.707+226T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 10/66 chr6 52070180
chr6:52070263 T
T
 G
G
 122 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(119): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 122 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(119): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.707+143A>C
c.707+143A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 10/66 chr6 52070263
chr6:52070506 A
A
 G
G
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.668-61T>C
c.668-61T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/66 chr6 52070506
chr6:52070575 T
T
 C
C
 5 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
others(2): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
a0002c0005t0002g0018
a0002c0033t0002g0017
 5 HG02040.hp1
HG02055.hp2
NA18747.hp2
others(2): Show 
HG02040.hp1
HG02055.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.668-130A>G
c.668-130A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/66 chr6 52070575
chr6:52070622 A
A
 G
G
 1 a0032c0058t0001g0070
a0032c0058t0001g0070
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.668-177T>C
c.668-177T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/66 chr6 52070622
chr6:52070746 T
T
 A
A
 5 a0001c0061t0001g0064
a0001c0083t0001g0125
a0037c0060t0005g0022
others(2): Show 
a0001c0061t0001g0064
a0001c0083t0001g0125
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 5 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(2): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.667+260A>T
c.667+260A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/66 chr6 52070746
chr6:52070905 T
T
 G
G
 2 a0001c0093t0001g0127
a0002c0021t0004g0128
a0001c0093t0001g0127
a0002c0021t0004g0128
 2 HG00738.hp1
HG01433.hp1
HG00738.hp1
HG01433.hp1
 intron_variant MODIFIER c.667+101A>C
c.667+101A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/66 chr6 52070905
chr6:52070949 C
C
 T
T
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.667+57G>A
c.667+57G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 9/66 chr6 52070949
chr6:52071092 G
G
 T
T
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.603-22C>A
c.603-22C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071092
chr6:52071222 T
T
 C
C
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.603-152A>G
c.603-152A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071222
chr6:52071266 T
T
 C
C
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.603-196A>G
c.603-196A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071266
chr6:52071460 C
C
 T
T
 56 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
others(53): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0047c0051t0004g0056
 56 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(53): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.603-390G>A
c.603-390G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071460
chr6:52071499 A
A
 G
G
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.603-429T>C
c.603-429T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071499
chr6:52071542 C
C
 T
T
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.603-472G>A
c.603-472G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071542
chr6:52071708 G
G
 C
C
 19 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
others(16): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0092t0004g0002
a0006c0011t0005g0134
a0047c0051t0004g0056
 19 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(16): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
NA19240.hp1
 intron_variant MODIFIER c.602+407C>G
c.602+407C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071708
chr6:52071761 T
T
 C
C
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
 12 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(9): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.602+354A>G
c.602+354A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071761
chr6:52071863 T
T
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.602+252A>C
c.602+252A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071863
chr6:52071919 C
C
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.602+196G>A
c.602+196G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071919
chr6:52071925 G
G
 A
A
 1 a0001c0019t0001g0118
a0001c0019t0001g0118
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.602+190C>T
c.602+190C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071925
chr6:52071971 G
G
 A
A
 1 a0002c0005t0002g0021
a0002c0005t0002g0021
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.602+144C>T
c.602+144C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52071971
chr6:52072048 T
T
 C
C
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.602+67A>G
c.602+67A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52072048
chr6:52072049 G
G
 A
A
 1 a0004c0008t0003g0003
a0004c0008t0003g0003
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.602+66C>T
c.602+66C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 8/66 chr6 52072049
chr6:52072321 G
G
 T
T
 7 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
others(4): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0006c0011t0005g0134
a0047c0051t0004g0056
 7 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(4): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA19240.hp1
 intron_variant MODIFIER c.528-132C>A
c.528-132C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52072321
chr6:52072673 T
T
 C
C
 36 a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
others(33): Show 
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 36 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528-484A>G
c.528-484A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52072673
chr6:52072721 G
G
 C
C
 2 a0001c0061t0001g0064
a0043c0063t0005g0066
a0001c0061t0001g0064
a0043c0063t0005g0066
 2 HG03453.hp1
NA20300.hp1
HG03453.hp1
NA20300.hp1
 intron_variant MODIFIER c.528-532C>G
c.528-532C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52072721
chr6:52072955 C
C
 T
T
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.527+508G>A
c.527+508G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52072955
chr6:52073147 C
C
 T
T
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.527+316G>A
c.527+316G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52073147
chr6:52073179 G
G
 A
A
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.527+284C>T
c.527+284C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52073179
chr6:52073269 A
A
 G
G
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.527+194T>C
c.527+194T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52073269
chr6:52073276 T
T
 C
C
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.527+187A>G
c.527+187A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52073276
chr6:52073412 C
C
 A
A
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.527+51G>T
c.527+51G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52073412
chr6:52073444 A
A
 G
G
 40 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(37): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 40 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(37): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.527+19T>C
c.527+19T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 7/66 chr6 52073444
chr6:52073619 G
G
 A
A
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.449-78C>T
c.449-78C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52073619
chr6:52073676 A
A
 G
G
 1 a0005c0040t0001g0029
a0005c0040t0001g0029
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.449-135T>C
c.449-135T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52073676
chr6:52073968 C
C
 G
G
 37 a0002c0091t0007g0133
a0003c0007t0001g0037
a0003c0007t0001g0043
others(34): Show 
a0002c0091t0007g0133
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
 37 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(34): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG03098.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.449-427G>C
c.449-427G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52073968
chr6:52074169 C
C
 T
T
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.449-628G>A
c.449-628G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52074169
chr6:52074466 T
T
 G
G
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.449-925A>C
c.449-925A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52074466
chr6:52074503 A
A
 T
T
 2 a0008c0018t0020g0074
a0008c0053t0016g0069
a0008c0018t0020g0074
a0008c0053t0016g0069
 2 HG02965.hp2
HG03098.hp1
HG02965.hp2
HG03098.hp1
 intron_variant MODIFIER c.449-962T>A
c.449-962T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52074503
chr6:52074664 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.449-1123C>T
c.449-1123C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52074664
chr6:52074865 C
C
 G
G
 2 a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0016t0001g0027
a0003c0016t0001g0028
 2 HG02698.hp2
HG03704.hp2
HG02698.hp2
HG03704.hp2
 intron_variant MODIFIER c.449-1324G>C
c.449-1324G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52074865
chr6:52074913 G
G
 A
A
 4 a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
others(1): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0006c0011t0005g0134
a0047c0051t0004g0056
 4 HG02922.hp2
HG02976.hp1
HG03139.hp2
others(1): Show 
HG02922.hp2
HG02976.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.448+1363C>T
c.448+1363C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52074913
chr6:52074967 G
G
 A
A
 5 a0001c0061t0001g0064
a0001c0083t0001g0125
a0037c0060t0005g0022
others(2): Show 
a0001c0061t0001g0064
a0001c0083t0001g0125
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 5 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(2): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.448+1309C>T
c.448+1309C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52074967
chr6:52075025 T
T
 C
C
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.448+1251A>G
c.448+1251A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075025
chr6:52075276 A
A
 G
G
 1 a0001c0034t0001g0016
a0001c0034t0001g0016
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.448+1000T>C
c.448+1000T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075276
chr6:52075340 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.448+936T>C
c.448+936T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075340
chr6:52075413 T
T
 C
C
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.448+863A>G
c.448+863A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075413
chr6:52075420 A
A
 T
T
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.448+856T>A
c.448+856T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075420
chr6:52075629 T
T
 G
G
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.448+647A>C
c.448+647A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075629
chr6:52075775 G
G
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.448+501C>G
c.448+501C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075775
chr6:52075889 G
G
 A
A
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.448+387C>T
c.448+387C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075889
chr6:52075891 G
G
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.448+385C>T
c.448+385C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075891
chr6:52075894 T
T
 C
C
 12 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
others(9): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0033t0002g0017
a0002c0092t0004g0002
 12 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(9): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02809.hp1
NA18747.hp2
NA18971.hp2
NA18988.hp1
NA19003.hp2
NA19054.hp2
 intron_variant MODIFIER c.448+382A>G
c.448+382A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075894
chr6:52075906 T
T
 G
G
 2 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0019
a0001c0001t0001g0020
 2 NA18988.hp1
NA19054.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.448+370A>C
c.448+370A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52075906
chr6:52076018 T
T
 C
C
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.448+258A>G
c.448+258A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52076018
chr6:52076091 A
A
 C
C
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.448+185T>G
c.448+185T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 6/66 chr6 52076091
chr6:52076376 A
A
 T
T
 6 a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
others(3): Show 
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
 6 HG00741.hp1
HG01175.hp1
HG02717.hp1
others(3): Show 
HG00741.hp1
HG01175.hp1
HG02717.hp1
HG02897.hp2
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.391-43T>A
c.391-43T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52076376
chr6:52076635 A
A
 T
T
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.391-302T>A
c.391-302T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52076635
chr6:52076661 G
G
 C
C
 56 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
others(53): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0047c0051t0004g0056
 56 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(53): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp2
NA18971.hp2
NA18988.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19054.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.391-328C>G
c.391-328C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52076661
chr6:52076740 T
T
 C
C
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.391-407A>G
c.391-407A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52076740
chr6:52076793 A
A
 C
C
 1 a0001c0061t0001g0064
a0001c0061t0001g0064
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.391-460T>G
c.391-460T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52076793
chr6:52077006 A
A
 T
T
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.391-673T>A
c.391-673T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52077006
chr6:52077131 T
T
 C
C
 2 a0001c0032t0001g0075
a0002c0005t0004g0076
a0001c0032t0001g0075
a0002c0005t0004g0076
 2 HG04184.hp1
HG04228.hp2
HG04184.hp1
HG04228.hp2
 intron_variant MODIFIER c.391-798A>G
c.391-798A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52077131
chr6:52077138 G
G
 A
A
 40 a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
others(37): Show 
a0001c0001t0001g0060
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 40 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(37): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.391-805C>T
c.391-805C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52077138
chr6:52077216 C
C
 T
T
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.391-883G>A
c.391-883G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52077216
chr6:52077245 T
T
 C
C
 5 a0001c0061t0001g0064
a0002c0065t0007g0068
a0037c0060t0005g0022
others(2): Show 
a0001c0061t0001g0064
a0002c0065t0007g0068
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 5 HG02922.hp1
HG03041.hp2
HG03453.hp1
others(2): Show 
HG02922.hp1
HG03041.hp2
HG03453.hp1
HG03453.hp2
NA20300.hp1
 intron_variant MODIFIER c.391-912A>G
c.391-912A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52077245
chr6:52077372 T
T
 C
C
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.391-1039A>G
c.391-1039A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52077372
chr6:52078075 A
A
 T
T
 1 a0001c0022t0001g0129
a0001c0022t0001g0129
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.391-1742T>A
c.391-1742T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078075
chr6:52078119 C
C
 T
T
 1 a0039c0066t0003g0098
a0039c0066t0003g0098
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.390+1781G>A
c.390+1781G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078119
chr6:52078146 C
C
 T
T
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.390+1754G>A
c.390+1754G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078146
chr6:52078324 C
C
 A
A
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.390+1576G>T
c.390+1576G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078324
chr6:52078458 C
C
 T
T
 40 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
others(37): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0047c0051t0004g0056
 40 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(37): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.390+1442G>A
c.390+1442G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078458
chr6:52078600 G
G
 A
A
 1 a0048c0023t0017g0081
a0048c0023t0017g0081
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.390+1300C>T
c.390+1300C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078600
chr6:52078784 T
T
 G
G
 1 a0044c0075t0001g0119
a0044c0075t0001g0119
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.390+1116A>C
c.390+1116A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078784
chr6:52078894 A
A
 G
G
 1 a0001c0019t0001g0097
a0001c0019t0001g0097
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.390+1006T>C
c.390+1006T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52078894
chr6:52079017 C
C
 A
A
 1 a0016c0090t0001g0120
a0016c0090t0001g0120
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.390+883G>T
c.390+883G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079017
chr6:52079098 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.390+802C>T
c.390+802C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079098
chr6:52079111 C
C
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.390+789G>A
c.390+789G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079111
chr6:52079120 C
C
 G
G
 10 a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
others(7): Show 
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 10 HG03669.hp1
HG04184.hp2
NA18975.hp2
others(7): Show 
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.390+780G>C
c.390+780G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079120
chr6:52079127 T
T
 C
C
 3 a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
a0002c0079t0007g0089
a0006c0076t0005g0088
a0045c0084t0006g0087
 3 HG01255.hp1
HG02486.hp1
HG03041.hp1
HG01255.hp1
HG02486.hp1
HG03041.hp1
 intron_variant MODIFIER c.390+773A>G
c.390+773A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079127
chr6:52079155 C
C
 T
T
 39 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(36): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0080t0002g0121
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0046c0067t0003g0112
 39 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(36): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
 intron_variant MODIFIER c.390+745G>A
c.390+745G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079155
chr6:52079340 G
G
 C
C
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.390+560C>G
c.390+560C>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079340
chr6:52079800 G
G
 A
A
 2 a0001c0001t0001g0062
a0006c0011t0005g0063
a0001c0001t0001g0062
a0006c0011t0005g0063
 2 HG02809.hp2
HG03225.hp1
HG02809.hp2
HG03225.hp1
 intron_variant MODIFIER c.390+100C>T
c.390+100C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 5/66 chr6 52079800
chr6:52080049 T
T
 C
C
 44 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(41): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
a0047c0051t0004g0056
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.282-41A>G
c.282-41A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080049
chr6:52080094 C
C
 A
A
 1 a0009c0054t0001g0082
a0009c0054t0001g0082
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.282-86G>T
c.282-86G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080094
chr6:52080158 C
C
 T
T
 1 a0034c0085t0004g0096
a0034c0085t0004g0096
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.282-150G>A
c.282-150G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080158
chr6:52080195 C
C
 CA
CA
 4 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(1): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0042c0035t0006g0059
 4 HG02257.hp2
HG02451.hp1
HG02965.hp1
others(1): Show 
HG02257.hp2
HG02451.hp1
HG02965.hp1
HG02970.hp1
 intron_variant MODIFIER c.282-188dupT
c.282-188dupT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080195
chr6:52080461 A
A
 T
T
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.282-453T>A
c.282-453T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080461
chr6:52080467 T
T
 A
A
 1 a0002c0080t0002g0121
a0002c0080t0002g0121
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.282-459A>T
c.282-459A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080467
chr6:52080490 T
T
 C
C
 48 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(45): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
a0047c0051t0004g0056
 48 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(45): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.282-482A>G
c.282-482A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080490
chr6:52080498 T
T
 C
C
 44 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(41): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
a0047c0051t0004g0056
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.282-490A>G
c.282-490A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080498
chr6:52080595 C
C
 G
G
 1 a0002c0065t0007g0068
a0002c0065t0007g0068
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.282-587G>C
c.282-587G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080595
chr6:52080929 A
A
 G
G
 72 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(69): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0015c0025t0001g0031
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
a0047c0051t0004g0056
 72 HG00423.hp2
HG00738.hp1
HG00741.hp2
others(69): Show 
HG00423.hp2
HG00738.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01255.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18964.hp2
NA18971.hp2
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.282-921T>C
c.282-921T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52080929
chr6:52081132 CT
CT
 C
C
 12 a0001c0061t0001g0064
a0002c0065t0007g0068
a0008c0018t0020g0074
others(9): Show 
a0001c0061t0001g0064
a0002c0065t0007g0068
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 12 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(9): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.282-1125delA
c.282-1125delA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081132
chr6:52081273 G
G
 A
A
 12 a0001c0061t0001g0064
a0002c0065t0007g0068
a0008c0018t0020g0074
others(9): Show 
a0001c0061t0001g0064
a0002c0065t0007g0068
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0037c0060t0005g0022
a0038c0062t0002g0065
a0043c0063t0005g0066
 12 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(9): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
NA20300.hp1
 intron_variant MODIFIER c.281+1119C>T
c.281+1119C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081273
chr6:52081465 T
T
 C
C
 8 a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0093t0001g0127
others(5): Show 
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0091t0007g0133
a0002c0092t0004g0002
 8 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(5): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02155.hp1
HG02809.hp1
HG03540.hp2
NA18971.hp2
NA19003.hp2
 intron_variant MODIFIER c.281+927A>G
c.281+927A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081465
chr6:52081562 CA
CA
 C
C
 54 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(51): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0005t0002g0018
a0002c0005t0004g0076
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0079t0007g0089
a0002c0091t0007g0133
a0002c0092t0004g0002
a0004c0043t0015g0057
a0006c0011t0005g0063
a0006c0076t0005g0088
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0037c0060t0005g0022
a0038c0062t0002g0065
a0042c0035t0006g0059
a0043c0063t0005g0066
a0045c0084t0006g0087
 54 HG00738.hp1
HG00741.hp1
HG01071.hp1
others(51): Show 
HG00738.hp1
HG00741.hp1
HG01071.hp1
HG01071.hp2
HG01175.hp1
HG01255.hp1
HG01433.hp1
HG02040.hp1
HG02055.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18971.hp2
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19007.hp1
NA19054.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
 intron_variant MODIFIER c.281+829delT
c.281+829delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081562
chr6:52081562 CAA
CAA
 C
C
 40 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
others(37): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0014c0024t0001g0004
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0047c0051t0004g0056
 40 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(37): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.281+828_281+829del
others(2): Show 
c.281+828_281+829delTT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081562
chr6:52081618 C
C
 T
T
 1 a0018c0052t0006g0086
a0018c0052t0006g0086
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.281+774G>A
c.281+774G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081618
chr6:52081966 A
A
 C
C
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.281+426T>G
c.281+426T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081966
chr6:52081972 G
G
 A
A
 1 a0008c0018t0020g0074
a0008c0018t0020g0074
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.281+420C>T
c.281+420C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52081972
chr6:52082015 TTC
TTC
 T
T
 8 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0062
a0001c0034t0001g0016
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0033t0002g0017
a0006c0011t0005g0063
 8 HG02040.hp1
HG02055.hp2
HG02809.hp2
others(5): Show 
HG02040.hp1
HG02055.hp2
HG02809.hp2
HG03225.hp1
HG03486.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.281+375_281+376del
others(2): Show 
c.281+375_281+376delGA
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52082015
chr6:52082095 T
T
 C
C
 133 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(130): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0054t0001g0082
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0011c0017t0005g0080
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0033c0059t0008g0001
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
a0048c0023t0017g0081
 133 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(130): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.281+297A>G
c.281+297A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52082095
chr6:52082327 A
A
 C
C
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.281+65T>G
c.281+65T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52082327
chr6:52082386 G
G
 T
T
 1 a0031c0057t0013g0067
a0031c0057t0013g0067
 1 HG02896.hp1
HG02896.hp1
 splice_region_variant&intron_variant LOW c.281+6C>A
c.281+6C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52082386
chr6:52082389 T
T
 C
C
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 splice_region_variant&intron_variant LOW c.281+3A>G
c.281+3A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 4/66 chr6 52082389
chr6:52083306 C
C
 T
T
 1 a0004c0008t0011g0026
a0004c0008t0011g0026
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.53-51G>A
c.53-51G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083306
chr6:52083590 CA
CA
 C
C
 3 a0001c0002t0001g0083
a0002c0004t0003g0085
a0002c0020t0003g0084
a0001c0002t0001g0083
a0002c0004t0003g0085
a0002c0020t0003g0084
 3 HG02155.hp2
NA18975.hp1
NA18989.hp2
HG02155.hp2
NA18975.hp1
NA18989.hp2
 intron_variant MODIFIER c.53-336delT
c.53-336delT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083590
chr6:52083620 A
A
 G
G
 2 a0001c0093t0001g0127
a0002c0021t0004g0128
a0001c0093t0001g0127
a0002c0021t0004g0128
 2 HG00738.hp1
HG01433.hp1
HG00738.hp1
HG01433.hp1
 intron_variant MODIFIER c.53-365T>C
c.53-365T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083620
chr6:52083674 C
C
 T
T
 2 a0003c0012t0001g0025
a0004c0014t0004g0024
a0003c0012t0001g0025
a0004c0014t0004g0024
 2 HG01081.hp1
HG04204.hp1
HG01081.hp1
HG04204.hp1
 intron_variant MODIFIER c.53-419G>A
c.53-419G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083674
chr6:52083677 T
T
 C
C
 8 a0002c0065t0007g0068
a0008c0018t0020g0074
a0008c0053t0016g0069
others(5): Show 
a0002c0065t0007g0068
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0011c0017t0005g0071
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
 8 HG02280.hp2
HG02818.hp1
HG02896.hp1
others(5): Show 
HG02280.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
 intron_variant MODIFIER c.53-422A>G
c.53-422A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083677
chr6:52083777 C
C
 T
T
 44 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(41): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
a0047c0051t0004g0056
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.53-522G>A
c.53-522G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083777
chr6:52083778 G
G
 A
A
 1 a0001c0009t0001g0123
a0001c0009t0001g0123
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.53-523C>T
c.53-523C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083778
chr6:52083831 C
C
 T
T
 1 a0020c0050t0001g0023
a0020c0050t0001g0023
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.53-576G>A
c.53-576G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083831
chr6:52083911 T
T
 C
C
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.53-656A>G
c.53-656A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083911
chr6:52083975 A
A
 G
G
 8 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0062
a0001c0034t0001g0016
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0033t0002g0017
a0006c0011t0005g0063
 8 HG02040.hp1
HG02055.hp2
HG02809.hp2
others(5): Show 
HG02040.hp1
HG02055.hp2
HG02809.hp2
HG03225.hp1
HG03486.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.53-720T>C
c.53-720T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52083975
chr6:52084052 T
T
 C
C
 1 a0001c0022t0001g0132
a0001c0022t0001g0132
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.53-797A>G
c.53-797A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084052
chr6:52084137 G
G
 T
T
 111 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(108): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0011c0017t0005g0071
a0013c0095t0014g0122
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 111 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(108): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.52+745C>A
c.52+745C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084137
chr6:52084185 T
T
 C
C
 1 a0040c0081t0001g0124
a0040c0081t0001g0124
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.52+697A>G
c.52+697A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084185
chr6:52084306 T
T
 A
A
 1 a0001c0083t0001g0125
a0001c0083t0001g0125
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.52+576A>T
c.52+576A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084306
chr6:52084447 C
C
 T
T
 40 a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
others(37): Show 
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0047c0051t0004g0056
 40 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(37): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.52+435G>A
c.52+435G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084447
chr6:52084493 G
G
 A
A
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.52+389C>T
c.52+389C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084493
chr6:52084591 T
T
 A
A
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.52+291A>T
c.52+291A>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084591
chr6:52084634 T
T
 G
G
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.52+248A>C
c.52+248A>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 2/66 chr6 52084634
chr6:52085064 A
A
 G
G
 44 a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
others(41): Show 
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0010t0001g0077
a0001c0010t0001g0078
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0134
a0015c0025t0001g0031
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0042c0035t0006g0059
a0047c0051t0004g0056
 44 HG00423.hp2
HG00741.hp2
HG01071.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp2
HG04204.hp1
HG04228.hp1
NA18747.hp1
NA18964.hp2
NA19001.hp2
NA19005.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-84-47T>C
c.-84-47T>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52085064
chr6:52085077 G
G
 A
A
 3 a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
a0001c0032t0001g0075
a0002c0005t0004g0076
a0002c0031t0003g0014
 3 HG04184.hp1
HG04204.hp2
HG04228.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp2
 intron_variant MODIFIER c.-84-60C>T
c.-84-60C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52085077
chr6:52085245 A
A
 AAAT
AAAT
 106 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(103): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0034t0001g0016
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0033t0002g0017
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 106 HG00423.hp1
HG00423.hp2
HG00738.hp2
others(103): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-84-231_-84-229dup
others(3): Show 
c.-84-231_-84-229dupATT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52085245
chr6:52085261 C
C
 T
T
 1 a0037c0060t0005g0022
a0037c0060t0005g0022
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.-84-244G>A
c.-84-244G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52085261
chr6:52085477 TGCTG
TGCTG
 T
T
 44 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(41): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 44 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(41): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.-84-464_-84-461del
others(4): Show 
c.-84-464_-84-461delCAGC
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52085477
chr6:52085532 C
C
 A
A
 44 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(41): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 44 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(41): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.-84-515G>T
c.-84-515G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52085532
chr6:52085779 G
G
 T
T
 6 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
others(3): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0034t0001g0016
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0033t0002g0017
 6 HG02040.hp1
HG02055.hp2
HG03486.hp2
others(3): Show 
HG02040.hp1
HG02055.hp2
HG03486.hp2
NA18747.hp2
NA18988.hp1
NA19054.hp2
 intron_variant MODIFIER c.-84-762C>A
c.-84-762C>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52085779
chr6:52086079 T
T
 TACAC
TACAC
 2 a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0010t0001g0077
a0001c0010t0001g0078
 2 HG02922.hp2
HG02976.hp1
HG02922.hp2
HG02976.hp1
 intron_variant MODIFIER c.-84-1066_-84-1063d
others(6): Show 
c.-84-1066_-84-1063dupGTGT
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086079
chr6:52086104 A
A
 T
T
 129 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(126): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 129 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(126): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-84-1087T>A
c.-84-1087T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086104
chr6:52086105 A
A
 T
T
 129 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(126): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 129 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(126): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-84-1088T>A
c.-84-1088T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086105
chr6:52086106 A
A
 T
T
 129 a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
others(126): Show 
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0010t0001g0077
a0001c0010t0001g0078
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0032t0001g0075
a0001c0034t0001g0016
a0001c0061t0001g0064
a0001c0082t0001g0105
a0001c0083t0001g0125
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0005t0002g0018
a0002c0005t0002g0021
a0002c0005t0004g0076
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0031t0003g0014
a0002c0033t0002g0017
a0002c0065t0007g0068
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0002c0091t0007g0133
a0002c0092t0004g0002
a0003c0007t0001g0037
a0003c0007t0001g0043
a0003c0007t0001g0049
a0003c0012t0001g0025
a0003c0012t0001g0032
a0003c0013t0001g0052
a0003c0013t0001g0054
a0003c0015t0001g0039
a0003c0015t0001g0041
a0003c0016t0001g0027
a0003c0016t0001g0028
a0003c0036t0001g0042
a0003c0041t0001g0046
a0003c0048t0001g0047
a0004c0006t0002g0048
a0004c0006t0002g0055
a0004c0006t0003g0040
a0004c0008t0003g0003
a0004c0008t0004g0045
a0004c0008t0011g0026
a0004c0014t0004g0024
a0004c0014t0004g0033
a0004c0043t0015g0057
a0004c0046t0002g0050
a0004c0047t0019g0015
a0004c0064t0003g0053
a0005c0037t0001g0038
a0005c0038t0001g0034
a0005c0039t0001g0030
a0005c0040t0001g0029
a0006c0011t0005g0063
a0006c0011t0005g0134
a0006c0076t0005g0088
a0006c0078t0005g0104
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0008c0018t0020g0074
a0008c0053t0016g0069
a0009c0056t0001g0073
a0009c0087t0001g0111
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0011c0017t0005g0071
a0012c0027t0002g0005
a0012c0029t0002g0010
a0013c0095t0014g0122
a0014c0024t0001g0004
a0015c0025t0001g0031
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0019c0049t0001g0035
a0020c0050t0001g0023
a0021c0045t0001g0036
a0022c0042t0002g0051
a0023c0044t0001g0044
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0030c0055t0002g0072
a0031c0057t0013g0067
a0032c0058t0001g0070
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0037c0060t0005g0022
a0038c0062t0002g0065
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0042c0035t0006g0059
a0043c0063t0005g0066
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
a0047c0051t0004g0056
 129 HG00423.hp1
HG00423.hp2
HG00738.hp1
others(126): Show 
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18964.hp1
NA18964.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19054.hp1
NA19054.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-84-1089T>A
c.-84-1089T>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086106
chr6:52086192 C
C
 A
A
 1 a0002c0004t0003g0126
a0002c0004t0003g0126
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.-84-1175G>T
c.-84-1175G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086192
chr6:52086260 G
G
 A
A
 45 a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
others(42): Show 
a0001c0002t0001g0083
a0001c0002t0001g0107
a0001c0002t0001g0113
a0001c0002t0001g0117
a0001c0002t0009g0099
a0001c0002t0009g0100
a0001c0009t0001g0103
a0001c0009t0001g0106
a0001c0009t0001g0123
a0001c0019t0001g0097
a0001c0019t0001g0118
a0001c0082t0001g0105
a0001c0083t0001g0125
a0002c0004t0003g0085
a0002c0004t0003g0126
a0002c0004t0004g0115
a0002c0004t0010g0101
a0002c0020t0003g0084
a0002c0020t0008g0110
a0002c0031t0003g0014
a0002c0077t0002g0102
a0002c0079t0007g0089
a0002c0080t0002g0121
a0006c0076t0005g0088
a0006c0078t0005g0104
a0009c0087t0001g0111
a0013c0095t0014g0122
a0016c0090t0001g0120
a0017c0089t0002g0116
a0018c0052t0006g0086
a0024c0068t0001g0091
a0025c0072t0001g0095
a0026c0073t0005g0094
a0027c0069t0018g0092
a0028c0071t0012g0093
a0029c0070t0008g0090
a0034c0085t0004g0096
a0035c0086t0001g0109
a0036c0074t0003g0108
a0039c0066t0003g0098
a0040c0081t0001g0124
a0041c0088t0006g0114
a0044c0075t0001g0119
a0045c0084t0006g0087
a0046c0067t0003g0112
 45 HG00423.hp1
HG00738.hp2
HG00741.hp1
others(42): Show 
HG00423.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01952.hp2
HG02040.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03704.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18964.hp1
NA18971.hp1
NA18975.hp1
NA18989.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp1
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.-85+1174C>T
c.-85+1174C>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086260
chr6:52086615 T
T
 C
C
 8 a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0093t0001g0127
others(5): Show 
a0001c0022t0001g0129
a0001c0022t0001g0132
a0001c0093t0001g0127
a0001c0094t0001g0131
a0002c0021t0004g0128
a0002c0021t0004g0130
a0002c0091t0007g0133
a0002c0092t0004g0002
 8 HG00738.hp1
HG01071.hp1
HG01433.hp1
others(5): Show 
HG00738.hp1
HG01071.hp1
HG01433.hp1
HG02155.hp1
HG02809.hp1
HG03540.hp2
NA18971.hp2
NA19003.hp2
 intron_variant MODIFIER c.-85+819A>G
c.-85+819A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086615
chr6:52086628 A
A
 C
C
 1 a0004c0047t0019g0015
a0004c0047t0019g0015
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.-85+806T>G
c.-85+806T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086628
chr6:52086824 C
C
 T
T
 1 a0002c0031t0003g0014
a0002c0031t0003g0014
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.-85+610G>A
c.-85+610G>A
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086824
chr6:52086877 A
A
 C
C
 11 a0004c0008t0003g0003
a0007c0003t0001g0006
a0007c0003t0001g0008
others(8): Show 
a0004c0008t0003g0003
a0007c0003t0001g0006
a0007c0003t0001g0008
a0007c0003t0001g0011
a0007c0003t0001g0012
a0010c0026t0001g0013
a0010c0028t0001g0009
a0010c0030t0001g0007
a0012c0027t0002g0005
a0012c0029t0002g0010
a0014c0024t0001g0004
 11 HG01496.hp2
HG03669.hp1
HG04184.hp2
others(8): Show 
HG01496.hp2
HG03669.hp1
HG04184.hp2
NA18975.hp2
NA18988.hp2
NA18989.hp1
NA19003.hp1
NA19007.hp1
NA19090.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.-85+557T>G
c.-85+557T>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52086877
chr6:52087007 C
C
 A
A
 1 a0002c0091t0007g0133
a0002c0091t0007g0133
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-85+427G>T
c.-85+427G>T
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52087007
chr6:52087086 T
T
 C
C
 1 a0006c0011t0005g0134
a0006c0011t0005g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.-85+348A>G
c.-85+348A>G
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52087086
chr6:52087152 C
C
 G
G
 1 a0002c0092t0004g0002
a0002c0092t0004g0002
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-85+282G>C
c.-85+282G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52087152
chr6:52087391 C
C
 G
G
 1 a0033c0059t0008g0001
a0033c0059t0008g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.-85+43G>C
c.-85+43G>C
PKHD1 ENSG00000170927.15 transcript ENST00000371117.8 protein_coding 1/66 chr6 52087391

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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